A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Published in PLoS genetics (27.04.2016)
Published in PLoS genetics (27.04.2016)
Get full text
Journal Article
Idiopathic toe-walking: a review
Sala, Debra A, Shulman, Lisa H, Kennedy, Rose F, Grant, Alfred D, Chu, Mary Lynn Y
Published in Developmental medicine and child neurology (01.12.1999)
Published in Developmental medicine and child neurology (01.12.1999)
Get full text
Journal Article
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome
Rizvi, Midhat, Truong, Tina K, Zhou, Janet, Batta, Manav, Moran, Ellen S, Pappas, John, Chu, Mary Lynn, Caluseriu, Oana, Evrony, Gilad D, Leslie, Elaine M, Cordat, Emmanuelle
Published in Human molecular genetics (20.04.2023)
Published in Human molecular genetics (20.04.2023)
Get full text
Journal Article
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
Shafique, Anum, Arif, Beenish, Chu, Mary Lynn, Moran, Ellen, Hussain, Tooba, Zamora, Francisca Millan, Wohler, Elizabeth, Sobreira, Nara, Klein, Christine, Lohmann, Katja, Naz, Sadaf
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
Get full text
Journal Article
Measuring ambulation with wrist‐based and hip‐based activity trackers for children with cerebral palsy
Sala, Debra A, Grissom, Helyn E, Delsole, Edward M, Chu, Mary Lynn, Godfried, David H, Bhattacharyya, Surjya, Karamitopoulos, Mara S, Chu, Alice
Published in Developmental medicine and child neurology (01.11.2019)
Published in Developmental medicine and child neurology (01.11.2019)
Get full text
Journal Article
Kufor‐Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese‐American Brothers
Noch, Evan, Henchcliffe, Claire, Hellmers, Natalie, Chu, Mary Lynn, Pappas, John, Moran, Ellen, Alcaraz, Wendy, Sarva, Harini
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.01.2018)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.01.2018)
Get full text
Journal Article
Kufor‐Rakeb Syndrome Due to a Novel ATP 13A2 Mutation in 2 Chinese‐American Brothers
Noch, Evan, Henchcliffe, Claire, Hellmers, Natalie, Chu, Mary Lynn, Pappas, John, Moran, Ellen, Alcaraz, Wendy, Sarva, Harini
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.01.2018)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.01.2018)
Get full text
Journal Article
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
Foley, A Reghan, Bolduc, Véronique, Guirguis, Fady, Donkervoort, Sandra, Hu, Ying, Orbach, Rotem, McCarty, Riley M, Sarathy, Apurva, Norato, Gina, Cummings, Beryl B, Lek, Monkol, Sarkozy, Anna, Butterfield, Russell J, Kirschner, Janbernd, Nascimento, Andrés, Benito, Daniel Natera-de, Quijano-Roy, Susana, Stojkovic, Tanya, Merlini, Luciano, Comi, Giacomo, Ryan, Monique, McDonald, Denise, Munot, Pinki, Yoon, Grace, Leung, Edward, Finanger, Erika, Leach, Meganne E, Collins, James, Tian, Cuixia, Mohassel, Payam, Neuhaus, Sarah B, Saade, Dimah, Cocanougher, Benjamin T, Chu, Mary-Lynn, Scavina, Mena, Grosmann, Carla, Richardson, Randal, Kossak, Brian D, Gospe, Jr, Sidney M, Bhise, Vikram, Taurina, Gita, Lace, Baiba, Troncoso, Monica, Shohat, Mordechai, Shalata, Adel, Chan, Sophelia H S, Jokela, Manu, Palmio, Johanna, Haliloğlu, Göknur, Jou, Cristina, Gartioux, Corine, Solomon-Degefa, Herimela, Freiburg, Carolin D, Schiavinato, Alvise, Zhou, Haiyan, Aguti, Sara, Nevo, Yoram, Nishino, Ichizo, Jimenez-Mallebrera, Cecilia, Lamandé, Shireen R, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, MacArthur, Daniel G, Wilton, Steve D, Wagener, Raimund, Bertini, Enrico, Muntoni, Francesco, Bönnemann, Carsten G
Published in medRxiv : the preprint server for health sciences (29.03.2024)
Get more information
Published in medRxiv : the preprint server for health sciences (29.03.2024)
Journal Article
Developmental implications of idiopathic toe walking
Shulman, Lisa H., Sala, Debra A., Chu, Mary Lynn Y., McCaul, Patricia R., Sandler, Bonnie J.
Published in The Journal of pediatrics (01.04.1997)
Published in The Journal of pediatrics (01.04.1997)
Get full text
Journal Article
Allgrove syndrome: Documenting cholinergic dysfunction by autonomic tests
Chu, Mary Lynn, Berlin, Dena, Axelrod, Felicia B.
Published in The Journal of pediatrics (01.07.1996)
Published in The Journal of pediatrics (01.07.1996)
Get full text
Journal Article
Idiopathic toe‐walking: a review
Sala, Debra A, Shulman, Lisa H, Kennedy, Rose F, Grant, Alfred D, Chu, Mary Lynn Y
Published in Developmental medicine and child neurology (01.12.1999)
Published in Developmental medicine and child neurology (01.12.1999)
Get full text
Journal Article