Observational study of spinal muscular atrophy type I and implications for clinical trials

Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). Patients were enrolled at 3 study sites and followed for up to 36 months with serial clinical, motor function, laboratory, and electrophysiologic outcome assessments. Intervention was...

Full description

Saved in:
Bibliographic Details
Published inNeurology Vol. 83; no. 9; p. 810
Main Authors Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, O'Hagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C
Format Journal Article
LanguageEnglish
Published United States 26.08.2014
Subjects
Cohort Studies
Female
Humans
Infant
Male
Research Design
Spinal Muscular Atrophies of Childhood
Online AccessGet more information

Cover

Abstract Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). Patients were enrolled at 3 study sites and followed for up to 36 months with serial clinical, motor function, laboratory, and electrophysiologic outcome assessments. Intervention was determined by published standard of care guidelines. Palliative care options were offered. Thirty-four of 54 eligible subjects with SMA-I (63%) enrolled and 50% of these completed at least 12 months of follow-up. The median age at reaching the combined endpoint of death or requiring at least 16 hours/day of ventilation support was 13.5 months (interquartile range 8.1-22.0 months). Requirement for nutritional support preceded that for ventilation support. The distribution of age at reaching the combined endpoint was similar for subjects with SMA-I who had symptom onset before 3 months and after 3 months of age (p=0.58). Having 2 SMN2 copies was associated with greater morbidity and mortality than having 3 copies. Baseline electrophysiologic measures indicated substantial motor neuron loss. By comparison, subjects with SMA-II who lost sitting ability (n=10) had higher motor function, motor unit number estimate and compound motor action potential, longer survival, and later age when feeding or ventilation support was required. The mean rate of decline in The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders motor function scale was 1.27 points/year (95% confidence interval 0.21-2.33, p=0.02). Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint. These outcome data can be used for clinical trial design.
AbstractList Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). Patients were enrolled at 3 study sites and followed for up to 36 months with serial clinical, motor function, laboratory, and electrophysiologic outcome assessments. Intervention was determined by published standard of care guidelines. Palliative care options were offered. Thirty-four of 54 eligible subjects with SMA-I (63%) enrolled and 50% of these completed at least 12 months of follow-up. The median age at reaching the combined endpoint of death or requiring at least 16 hours/day of ventilation support was 13.5 months (interquartile range 8.1-22.0 months). Requirement for nutritional support preceded that for ventilation support. The distribution of age at reaching the combined endpoint was similar for subjects with SMA-I who had symptom onset before 3 months and after 3 months of age (p=0.58). Having 2 SMN2 copies was associated with greater morbidity and mortality than having 3 copies. Baseline electrophysiologic measures indicated substantial motor neuron loss. By comparison, subjects with SMA-II who lost sitting ability (n=10) had higher motor function, motor unit number estimate and compound motor action potential, longer survival, and later age when feeding or ventilation support was required. The mean rate of decline in The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders motor function scale was 1.27 points/year (95% confidence interval 0.21-2.33, p=0.02). Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint. These outcome data can be used for clinical trial design.
Author Gooch, Clifton
Kang, Peter B
Kaufmann, Petra
Marra, Jonathan
Chung, Wendy K
Foley, A Reghan
Martens, William B
O'Hagen, Jessica
Ryan, Patricia A
Montgomery, Megan
Benton, Maryjane
Montes, Jacqueline
McDermott, Michael P
Oskoui, Maryam
Riley, Susan
Darras, Basil T
Flickinger, Jean
Quigley, Janet
De Vivo, Darryl C
Dunaway, Sally
Finkel, Richard S
Glanzman, Allan M
Yang, Michelle L
Sproule, Douglas M
Author_xml – sequence: 1
  givenname: Richard S
  surname: Finkel
  fullname: Finkel, Richard S
  email: rfinkel@nemours.org
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL. rfinkel@nemours.org
– sequence: 2
  givenname: Michael P
  surname: McDermott
  fullname: McDermott, Michael P
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 3
  givenname: Petra
  surname: Kaufmann
  fullname: Kaufmann, Petra
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 4
  givenname: Basil T
  surname: Darras
  fullname: Darras, Basil T
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 5
  givenname: Wendy K
  surname: Chung
  fullname: Chung, Wendy K
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 6
  givenname: Douglas M
  surname: Sproule
  fullname: Sproule, Douglas M
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 7
  givenname: Peter B
  surname: Kang
  fullname: Kang, Peter B
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 8
  givenname: A Reghan
  surname: Foley
  fullname: Foley, A Reghan
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 9
  givenname: Michelle L
  surname: Yang
  fullname: Yang, Michelle L
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 10
  givenname: William B
  surname: Martens
  fullname: Martens, William B
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 11
  givenname: Maryam
  surname: Oskoui
  fullname: Oskoui, Maryam
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 12
  givenname: Allan M
  surname: Glanzman
  fullname: Glanzman, Allan M
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 13
  givenname: Jean
  surname: Flickinger
  fullname: Flickinger, Jean
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 14
  givenname: Jacqueline
  surname: Montes
  fullname: Montes, Jacqueline
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 15
  givenname: Sally
  surname: Dunaway
  fullname: Dunaway, Sally
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 16
  givenname: Jessica
  surname: O'Hagen
  fullname: O'Hagen, Jessica
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 17
  givenname: Janet
  surname: Quigley
  fullname: Quigley, Janet
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 18
  givenname: Susan
  surname: Riley
  fullname: Riley, Susan
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 19
  givenname: Maryjane
  surname: Benton
  fullname: Benton, Maryjane
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 20
  givenname: Patricia A
  surname: Ryan
  fullname: Ryan, Patricia A
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 21
  givenname: Megan
  surname: Montgomery
  fullname: Montgomery, Megan
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 22
  givenname: Jonathan
  surname: Marra
  fullname: Marra, Jonathan
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 23
  givenname: Clifton
  surname: Gooch
  fullname: Gooch, Clifton
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
– sequence: 24
  givenname: Darryl C
  surname: De Vivo
  fullname: De Vivo, Darryl C
  organization: From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL
BackLink https://www.ncbi.nlm.nih.gov/pubmed/25080519$$D View this record in MEDLINE/PubMed
BookMark eNpNj9tKxDAYhIMo7kHfQCQv0DX5t0nTS1k8LCzujaJ4s_zNASPpgaQV-vbWEzg3w3wwA7Mgx03bWEIuOFtx4HD1_LBbsf8qcn5E5lyAzOQaXmZkkdI7YxMoylMyA8EUE7yck9d9lWz8wN63DQaa-sGMtHU0df4r10PSQ8BIsY9t9zbSfuws3VJsDPV1F7z-bibq2kh18M0EAu2jx5DOyImbzJ7_-pI83d48bu6z3f5uu7neZVoKyTNnOLgSsdTScVhzrkvjjK6UUAXmqgBrBNMoUWttUGHuKqmkKIBxCRoYLMnlz243VLU1hy76GuN4-DsJn2HkVpM
CitedBy_id crossref_primary_10_1038_s41591_022_01867_3
crossref_primary_10_3233_JND_221644
crossref_primary_10_1016_j_joim_2022_10_003
crossref_primary_10_3233_PRM_190664
crossref_primary_10_1016_j_ejpn_2022_07_005
crossref_primary_10_1017_cjn_2023_34
crossref_primary_10_1186_s12883_015_0473_3
crossref_primary_10_1007_s10198_020_01212_w
crossref_primary_10_1016_j_earlhumdev_2019_104851
crossref_primary_10_3390_ijms26052213
crossref_primary_10_3389_fphar_2024_1475884
crossref_primary_10_1177_08830738251322224
crossref_primary_10_1016_j_nmd_2019_08_014
crossref_primary_10_5734_JGM_2020_17_2_55
crossref_primary_10_1016_j_nmd_2023_02_004
crossref_primary_10_1038_s41434_024_00456_y
crossref_primary_10_1126_scitranslmed_abb6871
crossref_primary_10_4187_respcare_10353
crossref_primary_10_1002_cpt_2247
crossref_primary_10_1016_j_nmd_2025_105341
crossref_primary_10_1016_S1474_4422_21_00071_5
crossref_primary_10_1136_archdischild_2022_323899
crossref_primary_10_1016_j_jpeds_2020_07_033
crossref_primary_10_18553_jmcp_2019_25_12_1300
crossref_primary_10_1093_ptj_pzac108
crossref_primary_10_1038_gt_2017_39
crossref_primary_10_1097_MOP_0000000000001403
crossref_primary_10_3389_fneur_2023_1230889
crossref_primary_10_1016_j_nmd_2015_04_009
crossref_primary_10_1016_j_nmd_2017_01_017
crossref_primary_10_1080_14712598_2022_2066471
crossref_primary_10_1038_s41392_024_01780_w
crossref_primary_10_1111_dmcn_14798
crossref_primary_10_1016_j_pcl_2015_03_010
crossref_primary_10_1016_S1474_4422_22_00339_8
crossref_primary_10_1097_WCO_0000000000000973
crossref_primary_10_4037_aacnacc2020436
crossref_primary_10_1002_mus_27261
crossref_primary_10_1177_2329048X19830473
crossref_primary_10_1007_s11910_017_0798_y
crossref_primary_10_1007_s13760_019_01199_z
crossref_primary_10_1002_mus_27380
crossref_primary_10_1016_j_nmd_2024_105270
crossref_primary_10_1016_j_jns_2015_08_1532
crossref_primary_10_1038_nrneurol_2017_189
crossref_primary_10_1186_s13023_017_0671_8
crossref_primary_10_1016_j_nmd_2025_105313
crossref_primary_10_24953_turkjpediatr_2024_4527
crossref_primary_10_1002_mus_26735
crossref_primary_10_1016_j_ejpn_2021_02_009
crossref_primary_10_17116_jnevro202312303134
crossref_primary_10_1016_S1474_4422_21_00251_9
crossref_primary_10_1177_08830738211040292
crossref_primary_10_1136_jnnp_2016_314292
crossref_primary_10_1002_ajmg_a_61918
crossref_primary_10_1002_mus_26178
crossref_primary_10_1212_WNL_0000000000009936
crossref_primary_10_1002_ppul_25055
crossref_primary_10_46563_2686_8997_2023_4_2_64_73
crossref_primary_10_1212_WNL_0000000000009248
crossref_primary_10_1002_cpt_2224
crossref_primary_10_1111_dmcn_14412
crossref_primary_10_3233_JND_200610
crossref_primary_10_3233_JND_221531
crossref_primary_10_1007_s12325_019_00923_8
crossref_primary_10_1016_j_jpeds_2019_12_047
crossref_primary_10_1016_S1474_4422_17_30436_2
crossref_primary_10_14531_ss2020_2_79_94
crossref_primary_10_1038_nrneurol_2015_77
crossref_primary_10_3390_pharmaceutics15061764
crossref_primary_10_1016_j_nmd_2021_02_019
crossref_primary_10_1542_peds_2019_0226
crossref_primary_10_3233_JND_230122
crossref_primary_10_1016_j_pediatrneurol_2019_05_005
crossref_primary_10_1055_s_0043_1770055
crossref_primary_10_17925_USN_2022_18_2_133
crossref_primary_10_1056_NEJMoa2102047
crossref_primary_10_1002_ana_25533
crossref_primary_10_1016_j_prrv_2023_06_004
crossref_primary_10_1056_NEJMoa1702752
crossref_primary_10_1016_j_nmd_2016_05_005
crossref_primary_10_1016_j_eclinm_2023_101997
crossref_primary_10_1097_PHM_0000000000001869
crossref_primary_10_3233_JND_190451
crossref_primary_10_1002_phar_2866
crossref_primary_10_3233_JND_221560
crossref_primary_10_1007_s40273_022_01197_9
crossref_primary_10_1016_j_ymthe_2020_12_007
crossref_primary_10_1590_S1519_38292015000400007
crossref_primary_10_3390_ijms25168763
crossref_primary_10_1136_archdischild_2023_325762
crossref_primary_10_3390_jcm12206696
crossref_primary_10_1016_j_jsmc_2024_04_004
crossref_primary_10_1186_s13023_021_01695_7
crossref_primary_10_1016_j_neuron_2019_02_017
crossref_primary_10_1016_j_nmd_2017_05_011
crossref_primary_10_2196_46363
crossref_primary_10_1371_journal_pone_0201004
crossref_primary_10_3389_fneur_2022_1038012
crossref_primary_10_1002_ppul_26285
crossref_primary_10_1016_j_nmd_2017_11_005
crossref_primary_10_1080_14712598_2018_1479739
crossref_primary_10_1186_s13023_020_01356_1
crossref_primary_10_52965_001c_25579
crossref_primary_10_3233_JND_200508
crossref_primary_10_3390_ijerph17238989
crossref_primary_10_1016_j_ejpn_2017_11_001
crossref_primary_10_1212_CON_0000000000000918
crossref_primary_10_46563_1560_9561_2022_25_1_18_22
crossref_primary_10_17116_jnevro202412411134
crossref_primary_10_1056_NEJMoa2009965
crossref_primary_10_1016_j_ejpn_2022_04_006
crossref_primary_10_1080_03007995_2021_1947216
crossref_primary_10_1007_s40272_022_00529_8
crossref_primary_10_1371_journal_pone_0150640
crossref_primary_10_1002_acn3_52093
crossref_primary_10_1002_mus_25776
crossref_primary_10_1007_s40124_018_0150_2
crossref_primary_10_7705_biomedica_6178
crossref_primary_10_1186_s13023_020_1348_2
crossref_primary_10_1371_journal_pone_0202104
crossref_primary_10_3233_JND_180301
crossref_primary_10_1002_ppul_26173
crossref_primary_10_3390_ijms232315209
crossref_primary_10_17650_2222_8721_2024_14_4_58_70
crossref_primary_10_1002_ana_24864
crossref_primary_10_1016_j_ejpn_2018_08_009
crossref_primary_10_3233_JND_180304
crossref_primary_10_3389_fncel_2023_1307636
crossref_primary_10_1002_ppul_24203
crossref_primary_10_1002_acn3_51449
crossref_primary_10_1007_s00431_021_04325_3
crossref_primary_10_1016_j_nmd_2019_09_007
crossref_primary_10_1007_s12325_020_01340_y
crossref_primary_10_1007_s41669_018_0093_0
crossref_primary_10_1016_j_pacs_2021_100315
crossref_primary_10_1016_S1474_4422_23_00419_2
crossref_primary_10_1038_s41434_019_0085_4
crossref_primary_10_1016_S0140_6736_16_31408_8
crossref_primary_10_17650_2222_8721_2024_14_3_54_71
crossref_primary_10_3233_JND_230054
crossref_primary_10_1177_0897190019854962
crossref_primary_10_3389_fneur_2021_726468
crossref_primary_10_1007_s40265_019_01162_5
crossref_primary_10_1080_21678707_2020_1802719
crossref_primary_10_1093_ptj_pzad008
crossref_primary_10_3233_JND_230177
crossref_primary_10_1001_jamaneurol_2021_1272
crossref_primary_10_1055_s_0044_1791201
crossref_primary_10_17650_2222_8721_2022_12_1_29_38
crossref_primary_10_1212_CON_0000000000001338
crossref_primary_10_3390_genes15080999
crossref_primary_10_1055_s_0044_1792096
crossref_primary_10_3390_jcm13164875
crossref_primary_10_2217_cer_2021_0216
crossref_primary_10_31744_einstein_journal_2024AE1133
crossref_primary_10_1002_cpt_2384
crossref_primary_10_1016_j_nmd_2023_06_005
crossref_primary_10_1016_j_sleep_2023_09_019
crossref_primary_10_1044_2021_AJSLP_20_00217
crossref_primary_10_3390_ijns5040041
crossref_primary_10_1093_brain_awac252
crossref_primary_10_18553_jmcp_2019_18378
crossref_primary_10_3390_biology11060894
crossref_primary_10_1002_14651858_CD006281_pub5
crossref_primary_10_1016_j_jpeds_2020_04_065
crossref_primary_10_1016_j_ccm_2024_02_021
crossref_primary_10_3233_JND_200533
crossref_primary_10_1016_j_pediatrneurol_2015_06_002
crossref_primary_10_1016_j_nmd_2020_12_006
crossref_primary_10_1080_10400435_2019_1586788
crossref_primary_10_1007_s12325_024_02845_6
crossref_primary_10_1016_j_nmd_2016_10_002
crossref_primary_10_1212_WNL_0000000000006050
crossref_primary_10_1093_nar_gkw533
crossref_primary_10_1080_21678707_2021_2003778
crossref_primary_10_1016_j_prrv_2018_07_006
crossref_primary_10_1056_NEJMra1706910
crossref_primary_10_3233_JND_170292
crossref_primary_10_1038_gt_2017_52
crossref_primary_10_1002_mus_27853
crossref_primary_10_1007_s40259_021_00486_7
crossref_primary_10_3389_fneur_2024_1326528
crossref_primary_10_1177_09727531211046365
crossref_primary_10_1007_s40142_019_00172_9
crossref_primary_10_1016_j_heliyon_2024_e32732
crossref_primary_10_3233_JND_200539
crossref_primary_10_1002_pmrj_12948
crossref_primary_10_1016_j_ejpn_2024_08_006
crossref_primary_10_1016_j_neurot_2024_e00437
crossref_primary_10_1136_bmjpo_2024_002775
crossref_primary_10_1007_s40120_023_00552_y
crossref_primary_10_3390_ijns8030045
crossref_primary_10_1007_s40273_019_00769_6
crossref_primary_10_1136_jnnp_2021_326344
crossref_primary_10_3390_healthcare11101515
crossref_primary_10_1186_s13023_020_01498_2
crossref_primary_10_1056_NEJMoa1706198
crossref_primary_10_1016_j_neuropharm_2016_12_015
crossref_primary_10_1212_WNL_0000000000006281
crossref_primary_10_1186_s13023_022_02455_x
crossref_primary_10_3988_jcn_2017_13_1_27
crossref_primary_10_34883_PI_2021_11_2_039
crossref_primary_10_46563_2686_8997_2021_2_1_7_9
crossref_primary_10_1002_med_21705
crossref_primary_10_1002_mus_27644
crossref_primary_10_1186_s13023_019_0998_4
crossref_primary_10_3390_ijms25158364
crossref_primary_10_1002_ppul_25795
crossref_primary_10_2139_ssrn_3988637
crossref_primary_10_1002_ppul_24461
crossref_primary_10_1093_hmg_ddv127
crossref_primary_10_56782_pps_134
crossref_primary_10_1016_j_braindev_2023_12_001
crossref_primary_10_1016_j_nbd_2015_12_014
crossref_primary_10_1186_s13023_017_0724_z
crossref_primary_10_1111_ene_16517
crossref_primary_10_1016_j_lanepe_2023_100817
crossref_primary_10_52711_2321_5836_2022_00042
crossref_primary_10_1016_j_omtm_2021_02_014
crossref_primary_10_1016_j_ejpn_2024_05_002
crossref_primary_10_1080_14737175_2023_2252179
crossref_primary_10_1007_s12325_019_01088_0
crossref_primary_10_1016_j_spen_2021_100899
crossref_primary_10_1590_0004_282x_anp_2022_s135
crossref_primary_10_1080_21678707_2022_2152671
crossref_primary_10_3233_NPM_200680
crossref_primary_10_1007_s00431_023_04883_8
crossref_primary_10_3389_fneur_2022_1064194
crossref_primary_10_1016_j_jpeds_2020_05_044
crossref_primary_10_1164_rccm_201906_1175LE
crossref_primary_10_1016_j_cll_2020_05_005
crossref_primary_10_1212_CPJ_0000000000200298
crossref_primary_10_1055_a_2002_5215
crossref_primary_10_1177_22143602241308762
crossref_primary_10_1038_s41431_019_0415_4
crossref_primary_10_1016_j_nmd_2017_02_014
crossref_primary_10_21508_1027_4065_2021_66_4_64_73
crossref_primary_10_1016_j_pediatrneurol_2023_04_007
crossref_primary_10_1111_dmcn_14027
crossref_primary_10_1186_s40348_023_00171_5
crossref_primary_10_1093_hmg_ddx215
crossref_primary_10_1007_s12325_022_02089_2
crossref_primary_10_1016_j_nmd_2021_07_015
crossref_primary_10_1080_14656566_2019_1704732
crossref_primary_10_1016_j_ncl_2020_03_002
crossref_primary_10_1186_s13023_021_02065_z
crossref_primary_10_46563_2686_8997_2024_5_3_128_146
crossref_primary_10_1007_s40273_021_01095_6
crossref_primary_10_57187_s_3573
crossref_primary_10_1016_j_rmclc_2018_08_001
crossref_primary_10_1186_s12883_023_03133_6
crossref_primary_10_3390_ijms21093297
crossref_primary_10_1002_mus_26457
crossref_primary_10_1007_s00415_022_11319_0
crossref_primary_10_1007_s40265_020_01410_z
crossref_primary_10_1212_WNL_0000000000008207
crossref_primary_10_1016_j_prrv_2020_09_002
crossref_primary_10_1111_ped_15175
crossref_primary_10_3390_arm92050032
crossref_primary_10_55275_JPOSNA_2020_89
crossref_primary_10_1016_j_pcl_2023_06_002
crossref_primary_10_1371_journal_pone_0302860
crossref_primary_10_1002_slct_202300225
crossref_primary_10_1016_j_jpeds_2021_06_033
crossref_primary_10_1212_WNL_0000000000200986
crossref_primary_10_1002_ajmg_a_63369
crossref_primary_10_1016_j_spen_2021_100878
crossref_primary_10_3233_JND_190403
crossref_primary_10_1055_s_0044_1791757
crossref_primary_10_1007_s43441_020_00219_y
crossref_primary_10_1089_hum_2019_217
crossref_primary_10_1146_annurev_neuro_070918_050501
crossref_primary_10_57264_cer_2023_0187
crossref_primary_10_1542_peds_2020_0729
crossref_primary_10_1002_mgg3_2049
crossref_primary_10_1007_s11010_020_03834_3
crossref_primary_10_1177_1073858417705059
crossref_primary_10_1212_WNL_0000000000200676
crossref_primary_10_1093_hmg_ddaa145
crossref_primary_10_1186_s13023_017_0695_0
crossref_primary_10_1016_j_molmed_2021_03_010
crossref_primary_10_4274_buchd_galenos_2021_83713
crossref_primary_10_3389_fped_2020_00004
crossref_primary_10_1016_j_braindev_2017_04_018
crossref_primary_10_1007_s00405_022_07685_0
crossref_primary_10_2739_kurumemedj_MS6934008
crossref_primary_10_3390_jcm12247553
crossref_primary_10_1016_j_ultrasmedbio_2023_02_021
crossref_primary_10_1016_j_ymthe_2024_06_020
crossref_primary_10_1093_hmg_ddz131
crossref_primary_10_1016_j_rlfa_2025_100513
crossref_primary_10_1080_20016689_2020_1843277
crossref_primary_10_1002_mus_25705
crossref_primary_10_1007_s40273_021_01118_2
crossref_primary_10_1016_j_ejpn_2022_06_001
crossref_primary_10_1016_j_nmd_2019_03_003
crossref_primary_10_1146_annurev_pharmtox_010919_023738
crossref_primary_10_1007_s12035_017_0831_9
crossref_primary_10_1172_JCI173702
crossref_primary_10_1016_S1474_4422_21_00001_6
crossref_primary_10_1080_20016689_2019_1601484
crossref_primary_10_21508_1027_4065_2024_69_4_16_30
crossref_primary_10_1089_hum_2022_161
crossref_primary_10_1016_j_ejpn_2016_07_017
crossref_primary_10_1172_JCI121658
crossref_primary_10_1002_acn3_283
crossref_primary_10_1016_j_nmd_2017_09_015
crossref_primary_10_1097_01_NT_0000520852_35562_83
crossref_primary_10_1016_j_pediatrneurol_2023_08_034
crossref_primary_10_1016_j_jmoldx_2020_10_011
crossref_primary_10_3390_brainsci13101446
crossref_primary_10_1016_j_gimo_2023_100825
crossref_primary_10_1136_bmjopen_2023_082240
crossref_primary_10_1212_CPJ_0000000000001033
crossref_primary_10_17650_2222_8721_2021_11_3_37_44
crossref_primary_10_1016_S2352_4642_21_00100_0
crossref_primary_10_1002_mus_27556
crossref_primary_10_1016_S2352_4642_18_30140_8
crossref_primary_10_1212_CPJ_0000000000200374
crossref_primary_10_1016_j_eclinm_2024_102967
crossref_primary_10_1016_j_nmd_2016_06_459
crossref_primary_10_1002_acn3_52018
crossref_primary_10_1038_s41591_022_01866_4
crossref_primary_10_1007_s12015_019_09910_6
crossref_primary_10_1016_j_braindev_2022_10_006
crossref_primary_10_18553_jmcp_2018_24_12_a_s3
crossref_primary_10_1007_s00405_024_08922_4
crossref_primary_10_1016_j_ymthe_2025_02_025
crossref_primary_10_1017_cjn_2020_229
crossref_primary_10_31083_j_fbl2706179
crossref_primary_10_1016_j_jpeds_2017_06_042
crossref_primary_10_1016_j_ncl_2015_07_004
crossref_primary_10_1017_cjn_2021_231
crossref_primary_10_3390_children10050892
crossref_primary_10_1186_s43042_024_00551_0
crossref_primary_10_1136_archdischild_2021_323605
crossref_primary_10_1089_hum_2021_255
crossref_primary_10_1177_18632521241235028
crossref_primary_10_1016_j_sleep_2022_11_006
crossref_primary_10_1007_s11940_019_0568_z
crossref_primary_10_1080_14737175_2017_1364159
crossref_primary_10_1212_WNL_0000000000007319
crossref_primary_10_1093_hmg_ddae052
crossref_primary_10_3389_fdsfr_2024_1418050
crossref_primary_10_1002_mus_25164
crossref_primary_10_1002_ppul_25135
crossref_primary_10_3389_fneur_2020_00045
crossref_primary_10_1038_nrneurol_2015_34
crossref_primary_10_1002_ana_25101
crossref_primary_10_1016_j_pediatrneurol_2019_06_007
crossref_primary_10_3390_neurolint16030047
crossref_primary_10_1016_j_resp_2021_103773
crossref_primary_10_1016_j_rmed_2023_107143
crossref_primary_10_1590_0004_282x20190073
crossref_primary_10_1177_0883073816671236
crossref_primary_10_1002_ajmg_c_32028
crossref_primary_10_1016_j_jhep_2020_11_001
crossref_primary_10_1212_WNL_0000000000008192
crossref_primary_10_1002_ppul_26919
crossref_primary_10_1007_s12325_019_01087_1
crossref_primary_10_1016_j_ymthe_2023_08_013
crossref_primary_10_2106_JBJS_CC_20_00624
crossref_primary_10_1007_s00431_024_05735_9
crossref_primary_10_1097_MOP_0000000000001352
crossref_primary_10_1007_s00115_020_00871_7
crossref_primary_10_1002_ppul_25140
crossref_primary_10_1038_s41591_021_01483_7
crossref_primary_10_1080_13543784_2022_2056836
crossref_primary_10_3233_JND_221614
crossref_primary_10_1016_j_gene_2022_146322
crossref_primary_10_1080_20016689_2021_1889841
ContentType Journal Article
Copyright 2014 American Academy of Neurology.
Copyright_xml – notice: 2014 American Academy of Neurology.
DBID CGR
CUY
CVF
ECM
EIF
NPM
DOI 10.1212/WNL.0000000000000741
DatabaseName Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
DatabaseTitleList MEDLINE
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod no_fulltext_linktorsrc
Discipline Medicine
EISSN 1526-632X
ExternalDocumentID 25080519
Genre Research Support, U.S. Gov't, Non-P.H.S
Multicenter Study
Research Support, Non-U.S. Gov't
Journal Article
Observational Study
Research Support, N.I.H., Extramural
GrantInformation_xml – fundername: NCRR NIH HHS
  grantid: 1 UL1 RR025755
– fundername: NINDS NIH HHS
  grantid: 2P01NS-40828-6A11
– fundername: NCRR NIH HHS
  grantid: UL1 RR025755
– fundername: NCRR NIH HHS
  grantid: 1 UL1 RR024156
– fundername: NINDS NIH HHS
  grantid: 5R21-NS058926
– fundername: NIAMS NIH HHS
  grantid: R01-AR056973
– fundername: NIAMS NIH HHS
  grantid: U54 AR0526446-03
– fundername: NCATS NIH HHS
  grantid: UL1 TR001070
– fundername: NINDS NIH HHS
  grantid: K12 NS01698
– fundername: NINDS NIH HHS
  grantid: 1U54 NS065712-01
GroupedDBID ---
-~X
.XZ
.Z2
01R
0R~
123
1J1
29N
354
3PY
4Q1
4Q2
4Q3
53G
5RE
5VS
6PF
77Y
AAAXR
AAGIX
AAHPQ
AAIQE
AAJCS
AAMOA
AAMTA
AAQKA
AARTV
AASCR
AASOK
AASXQ
AAWTL
AAXQO
AAYEP
ABBLC
ABIVO
ABJNI
ABOCM
ABPXF
ABVCZ
ABXYN
ABZZY
ACCJW
ACDDN
ACGFS
ACILI
ACLDA
ACOAL
ACWRI
ACXJB
ACZKN
ADGGA
AE6
AEBDS
AENEX
AFDTB
AFEXH
AFNMH
AFUWQ
AGINI
AHOMT
AHQNM
AHQVU
AHVBC
AIJEX
AJCLO
AKCTQ
AKULP
AKWKN
ALMA_UNASSIGNED_HOLDINGS
AMJPA
AMKUR
AMNEI
AOHHW
BOYCO
BQLVK
BYPQX
C45
CGR
CS3
CUY
CVF
DIWNM
DU5
E.X
EBS
ECM
EIF
EJD
ERAAH
EX3
F2K
F2L
F2M
F2N
F5P
FCALG
GQDEL
HZ~
IKYAY
IN~
JF7
KD2
KMI
L-C
L7B
N9A
NPM
N~7
N~B
O9-
OAG
OAH
OBH
ODMTH
OHH
OHYEH
OL1
OLB
OLH
OLU
OLV
OLY
OLZ
OPX
OVD
OVDNE
OVIDH
OVLEI
OWU
OWV
OWW
OWX
OWY
OWZ
OXXIT
P2P
RLZ
RXW
SJN
TEORI
V2I
VVN
W3M
WH7
WOQ
WOW
XSW
XXN
XYM
XYN
YBU
YFH
~9M
ID FETCH-LOGICAL-c6561-fd12f9aa9c6f12311c9dfdcb8587a4872ed50ca6acccda8a4fb6865720162c202
IngestDate Mon Jul 21 06:07:10 EDT 2025
IsDoiOpenAccess false
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 9
Language English
License 2014 American Academy of Neurology.
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-c6561-fd12f9aa9c6f12311c9dfdcb8587a4872ed50ca6acccda8a4fb6865720162c202
OpenAccessLink https://n.neurology.org/content/neurology/83/9/810.full.pdf
PMID 25080519
ParticipantIDs pubmed_primary_25080519
PublicationCentury 2000
PublicationDate 2014-August-26
PublicationDateYYYYMMDD 2014-08-26
PublicationDate_xml – month: 08
  year: 2014
  text: 2014-August-26
  day: 26
PublicationDecade 2010
PublicationPlace United States
PublicationPlace_xml – name: United States
PublicationTitle Neurology
PublicationTitleAlternate Neurology
PublicationYear 2014
References 7813012 - Cell. 1995 Jan 13;80(1):155-65
21940700 - J Child Neurol. 2011 Dec;26(12):1499-507
10700538 - Eur J Paediatr Neurol. 1999;3(2):49-51
21811307 - Eur J Hum Genet. 2012 Jan;20(1):27-32
11791208 - Am J Hum Genet. 2002 Feb;70(2):358-68
22198810 - Pediatr Crit Care Med. 2012 May;13(3):e161-5
7733848 - Arch Neurol. 1995 May;52(5):518-23
20074952 - Neuromuscul Disord. 2010 Mar;20(3):155-61
21320981 - Arch Neurol. 2011 Jun;68(6):779-86
9605392 - Eur Neurol. 1998;39(3):154-62
22926856 - Ann Neurol. 2012 Aug;72(2):256-68
10339583 - Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11
23077013 - Neurology. 2012 Oct 30;79(18):1889-97
7881295 - Neuromuscul Disord. 1994 Sep-Nov;4(5-6):497-502
8664564 - Neuromuscul Disord. 1996 Mar;6(2):125-7
17998484 - Neurology. 2007 Nov 13;69(20):1931-6
16202598 - Neuromuscul Disord. 2005 Nov;15(11):802-16
15852397 - Ann Neurol. 2005 May;57(5):704-12
16236758 - Hum Mol Genet. 2005 Dec 1;14(23):3629-42
17761659 - J Child Neurol. 2007 Aug;22(8):1027-49
10072048 - Ann Neurol. 1999 Mar;45(3):337-43
References_xml – reference: 23077013 - Neurology. 2012 Oct 30;79(18):1889-97
– reference: 10339583 - Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11
– reference: 9605392 - Eur Neurol. 1998;39(3):154-62
– reference: 7813012 - Cell. 1995 Jan 13;80(1):155-65
– reference: 16236758 - Hum Mol Genet. 2005 Dec 1;14(23):3629-42
– reference: 17998484 - Neurology. 2007 Nov 13;69(20):1931-6
– reference: 22926856 - Ann Neurol. 2012 Aug;72(2):256-68
– reference: 10700538 - Eur J Paediatr Neurol. 1999;3(2):49-51
– reference: 7733848 - Arch Neurol. 1995 May;52(5):518-23
– reference: 21940700 - J Child Neurol. 2011 Dec;26(12):1499-507
– reference: 8664564 - Neuromuscul Disord. 1996 Mar;6(2):125-7
– reference: 7881295 - Neuromuscul Disord. 1994 Sep-Nov;4(5-6):497-502
– reference: 10072048 - Ann Neurol. 1999 Mar;45(3):337-43
– reference: 21320981 - Arch Neurol. 2011 Jun;68(6):779-86
– reference: 16202598 - Neuromuscul Disord. 2005 Nov;15(11):802-16
– reference: 21811307 - Eur J Hum Genet. 2012 Jan;20(1):27-32
– reference: 11791208 - Am J Hum Genet. 2002 Feb;70(2):358-68
– reference: 17761659 - J Child Neurol. 2007 Aug;22(8):1027-49
– reference: 20074952 - Neuromuscul Disord. 2010 Mar;20(3):155-61
– reference: 22198810 - Pediatr Crit Care Med. 2012 May;13(3):e161-5
– reference: 15852397 - Ann Neurol. 2005 May;57(5):704-12
SSID ssj0015279
Score 2.599622
Snippet Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). Patients were enrolled at 3 study sites...
SourceID pubmed
SourceType Index Database
StartPage 810
SubjectTerms Cohort Studies
Female
Humans
Infant
Male
Research Design
Spinal Muscular Atrophies of Childhood
Title Observational study of spinal muscular atrophy type I and implications for clinical trials
URI https://www.ncbi.nlm.nih.gov/pubmed/25080519
Volume 83
hasFullText
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3JTsMwELUKSIgLYt-RD1wDiZvYzhEoFVvhAgJxQV5iCYkuovTChV9nvCQNm1hyiKJYilK_V2dm_GYGoR0WMwH_tCJSTZ1HqaTNSGQFiVTCJSNE6dipCTsX9Pg6Pb3NbhuN15pqafQsd9XLl3kl_0EV7gGuNkv2D8hWD4UbcA34whkQhvOvML6UVUzVpX2E-tDDgWt11R0FkakNd8Ns-nDrid8uqAvJrdKwypB0bTyGdZvV1e-oB9_b4L_6zf2Qlj-On3ZUC5b6UgTiJfnjFLIzMTLd0JXZtvKqPgkt8fTkM8sOxPDhMSi3QzAiSW10lYRS1mEBJTSiTdcivVphfauawKS8tlxyL2n9tIzD9xTm_ubi3JeXLA_ma2TVkB10HbRgx3Fri_48-qG4djk0gSbAzbB9U22wJ2xCZYTlIdsSXmjvq9extaTDIz74Jc4-uZpDs8GxwPueJfOoUfQW0HQnSCcW0d07smBHFtw32JMFl2TBgSzYkgWfYCALrpMFA1lwSRbsybKErttHV4fHUWisESkw35PI6ISYXIhcUQOWS5KoXButJM84E-DBkkJnsRJUKKW04CI1knKaMUCcEkVisowme_1esYqwYDq3uc40buapMUxylmouJaeqEODsr6EVPyv3A1895b6cr_VvRzbQzJhbm2jKwC8ptsD2e5bbDqE3lKRZng
linkProvider National Library of Medicine
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Observational+study+of+spinal+muscular+atrophy+type+I+and+implications+for+clinical+trials&rft.jtitle=Neurology&rft.au=Finkel%2C+Richard+S&rft.au=McDermott%2C+Michael+P&rft.au=Kaufmann%2C+Petra&rft.au=Darras%2C+Basil+T&rft.date=2014-08-26&rft.eissn=1526-632X&rft.volume=83&rft.issue=9&rft.spage=810&rft_id=info:doi/10.1212%2FWNL.0000000000000741&rft_id=info%3Apmid%2F25080519&rft_id=info%3Apmid%2F25080519&rft.externalDocID=25080519