Results 1 to 10 of about 888,799 (202)

Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)

Archives De Pediatrie, 2020
E Salort-Campana
exaly  

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

Neuromuscular Disorders, 2022
Marzieh Babaee, Hossein Najmabadi, Parvaneh Karimzadeh   +2 more
exaly  

Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?

Neurobiology of Disease, 2020
Stefania Corti, Nereo Bresolin, Giacomo P Comi   +2 more
exaly  

MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice

Molecular Therapy - Nucleic Acids, 2023
Jun-An Chen
exaly  

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)

Archives De Pediatrie, 2020
A Chaussenot, V Paquis-Flucklinger
exaly  

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data

European Journal of Paediatric Neurology, 2022
Judit Erdos
exaly  

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Human Mutation, 2000
Brunhilde Wirth
exaly  

Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype

European Journal of Paediatric Neurology, 1999
Víctor Dubowitz
exaly  

Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA)

Archives De Pediatrie, 2020
B Chabrol
exaly  

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Neuromuscular Disorders, 2011
Eduardo Tizzano, José M Millán, Laura Alías   +2 more
exaly