Estimating the global prevalence of transthyretin familial amyloid polyneuropathy
Schmidt, Hartmut H., Waddington‐Cruz, Márcia, Botteman, Marc F., Carter, John A., Chopra, Avijeet S., Hopps, Markay, Stewart, Michelle, Fallet, Shari, Amass, Leslie
Published in Muscle & nerve (01.05.2018)
Published in Muscle & nerve (01.05.2018)
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The natural history of MPS I: global perspectives from the MPS I Registry
Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari
Published in Genetics in medicine (01.10.2014)
Published in Genetics in medicine (01.10.2014)
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Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series
Waddington-Cruz, Márcia, Schmidt, Hartmut, Botteman, Marc F, Carter, John A, Stewart, Michelle, Hopps, Markay, Fallet, Shari, Amass, Leslie
Published in Orphanet journal of rare diseases (08.02.2019)
Published in Orphanet journal of rare diseases (08.02.2019)
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A two-hit model for developmental defects in Gorlin syndrome
Levanat, Sonja, Gorlin, Robert J, Fallet, Shari, Johnson, Dennis R, Fantasia, John E, Bale, Alien E
Published in Nature genetics (01.01.1996)
Published in Nature genetics (01.01.1996)
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AVR-RD-01 lentiviral gene therapy reduces Gb3 substrate in endothelial cells of renal peritubular capillaries in a previously untreated classic Fabry disease male patient
Volck, Birgitte, Fallet, Shari, Thomas, Mark, Carnley, Benedict, Golipour, Azadeh, Phillips, Dawn, Mason, Chris
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I
Arn, Pamela, Bruce, Iain A., Wraith, James E., Travers, Helen, Fallet, Shari
Published in Annals of otology, rhinology & laryngology (01.03.2015)
Published in Annals of otology, rhinology & laryngology (01.03.2015)
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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
Al-Sannaa, Nouriya A, Bay, Luisa, Barbouth, Deborah S, Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A, Kyosen, Sandra Obikawa, Martins, Ana Maria, Phornphutkul, Chanika, Reig, Celia, Pleat, Rebecca, Fallet, Shari, Ivanovska Holder, Iva
Published in Orphanet journal of rare diseases (07.10.2015)
Published in Orphanet journal of rare diseases (07.10.2015)
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Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review
Schmidt, Hartmut, Cruz, Márcia Waddington, Botteman, Marc F., Carter, John A., Chopra, Avijeet, Stewart, Michelle, Hopps, Markay, Fallet, Shari, Amass, Leslie
Published in Amyloid (16.03.2017)
Published in Amyloid (16.03.2017)
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C
Brockington, M, Yuva, Y, Prandini, P, Brown, S C, Torelli, S, Benson, MA, Herrmann, R, Anderson, LVB, Bashir, R, Burgunder, J-M, Fallet, S, Romero, N, Fardeau, M, Muntoni, F
Published in Human molecular genetics (01.12.2001)
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Published in Human molecular genetics (01.12.2001)
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Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases
Cruz, Márcia Waddington, Schmidt, Hartmut, Botteman, Marc F., Carter, John A., Chopra, Avijeet S., Stewart, Michelle, Hopps, Markay, Fallet, Shari, Amass, Leslie
Published in Amyloid (16.03.2017)
Published in Amyloid (16.03.2017)
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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2i as a milder allelic variant of congenital muscular dystrophy MDC1C
BROCKINGTON, Martin, YUVA, Yeliz, FALLET, Shari, ROMERO, Norma, FARDEAU, Michel, STRAUB, Volker, STOREY, Gillian, POLLITT, Christine, RICHARD, Isabelle, SEWRY, Caroline A, BUSHBY, Kate, VOIT, Thomas, PRANDINI, Paola, BLAKE, Derek J, MUNTONI, Francesco, BROWN, Susan C, TORELLI, Silvia, BENSON, Matthew A, HERRMANN, Ralf, ANDERSON, Louise V. B, BASHIR, Rumaisa, BURGUNDER, Jean-Marc
Published in Human molecular genetics (01.12.2001)
Published in Human molecular genetics (01.12.2001)
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Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs
Pleat, Rebecca, Al-Sannaa, Nouriya, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra, Martins, Ana Maria, Phornphutkul, Chanika, Reig, Celia, Holder, Iva Ivanovska, Fallet, Shari
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Enzyme augmentation in moderate to life-threatening gaucher disease
FALLET, S, GRACE, M. E, SIBILLE, A, MENDELSON, D. S, SHAPIRO, R. S, HERMANN, G, GRABOWSKI, G. A
Published in Pediatric research (01.05.1992)
Published in Pediatric research (01.05.1992)
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Prenatal detection of monosomy 21 mosaicism
Ghidini, A, Fallet, S, Robinowitz, J, Lockwood, C J, Dische, R, Willner, J
Published in Prenatal diagnosis (01.03.1993)
Published in Prenatal diagnosis (01.03.1993)
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Mosaicism with a normal cell line and an unbalanced structural rearrangement
Zaslav, A L, Fallet, S, Blumenthal, D, Jacob, J, Fox, J
Published in American journal of medical genetics (01.01.1999)
Published in American journal of medical genetics (01.01.1999)
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