Results 191 to 200 of about 1,154 (251)

Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophy. [PDF]

J Clin Invest
Proud CM, Finkel RS, Parsons JA, Masson R, Brandsema JF, Kuntz NL, Foster R, Li W, Littauer R, Sohn J, Fradette S, Youn B, Paradis AD, RESPOND Study Group.   +13 more
europepmc   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY

, 2016
Theodosiou, A, Rodrigues, N, Talbot, K, Campbell, L, Nesbit, M, Owen, N, Ambrose, H, Muntoni, F, Patel, S, Ignatius, J, Dubowitz, V, Davies, K   +11 more
openaire   +1 more source

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

Science, 1994
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III).
Suzie Lefebvre, Lydie Bürglen, P Burlet   +2 more
exaly   +2 more sources

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Chaos in classification of the spinal muscular atrophies of childhood

Neuromuscular Disorders, 1991
exaly   +3 more sources

Childhood spinal muscular atrophy

2023
Spinal muscular atrophy (SMA) is caused by biallelic mutations in the SMN1 (survival motor neuron 1) gene on chromosome 5q13.2, which leads to a progressive degeneration of alpha motor neurons in the spinal cord and in motor nerve nuclei in the caudal brainstem.
David S, Younger, Jerry R, Mendell
openaire   +2 more sources

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Nature, 1990
PROXIMAL spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis1. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann
P Burlet, Corrado Angelini, G Ferriere   +2 more
exaly   +2 more sources

Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies

Journal of the Neurological Sciences, 1995
J F Pellissier, Genevieve Rougon
exaly   +2 more sources

Electrocardiographic abnormalities in childhood spinal muscular atrophy

International Journal of Cardiology, 1989
Tremors of the isoelectric line in routine electrocardiograms have been described in patients with spinal muscular atrophy and have been interpreted as fasciculations of denervated muscles. In order to evaluate this phenomenon, 13 patients with spinal muscular atrophy have been studied (average age: 37.3 months).
C, Coletta, P, Carboni, A, Carunchio, G, Porro, V, Bacci   +4 more
openaire   +2 more sources