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Neuromuscular Disorders : NMD|September 2, 2021
Congenital muscular dystrophies: What is new?Alberto A Zambon, Francesco MuntoniFrontiers in Molecular Neuroscience|August 28, 2020
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial ReadinessAnna Sarkozy, A Reghan Foley, Alberto A Zambon, et al.Journal of the Peripheral Nervous System : JPNS|May 16, 2020
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxiaAlberto A Zambon, Matthew Pitt, Matilde Laurà, et al.Annals of Clinical and Translational Neurology|September 10, 2020
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohortAlberto A Zambon, Deborah Ridout, Marion Main, et al.Developmental Medicine and Child Neurology|April 6, 2022
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophyAlberto A Zambon, Vandana Ayyar Gupta, Deborah Ridout, et al.Brain : a Journal of Neurology|November 29, 2022
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseasesAlberto A Zambon, Veronica Pini, Luca Bosco, et al.Neuromuscular Disorders : NMD|January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defectsAlberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.Neurology|August 11, 2022
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular DystrophyAlberto A Zambon, Federica Trucco, Aidan Laverty, et al.Neuromuscular Disorders : NMD|March 7, 2022
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findingsAlberto A Zambon, François Abel, Barry Linnane, et al.Neurology|December 23, 2021
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 DuplicationsAlberto A Zambon, Megan A Waldrop, Roxane Alles, et al.Pageof 2