Results 161 to 170 of about 1,143 (221)

Ubiquitination Insight from Spinal Muscular Atrophy-From Pathogenesis to Therapy: A Muscle Perspective. [PDF]

Int J Mol Sci
Bolado-Carrancio A, Tapia O, Rodríguez-Rey JC.   +2 more
europepmc   +1 more source

Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium. [PDF]

Orphanet J Rare Dis
Mouraux C, Dangouloff T, Poleur M, Mackels L, Vanden Brande L, Daron A, Servais L, Maertens de Noordhout A, Delstanche S.   +8 more
europepmc   +1 more source

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol. [PDF]

Einstein (Sao Paulo)
Batista EC, Zanoteli E, Monfardini F, Santos GPD, Silva GS, Berwanger O, Rizzo LV, Fonseca HARD.   +7 more
europepmc   +1 more source

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

JAMA Netw Open
Ropars J, Cances C, Garcia-Uzquiano R, Gomez-Garcia de la Banda M, Barnerias C, Audic F, Durigneux J, Halbert C, Nkam L, Laugel V, Espil C, Walther-Louvier U, Davion JB, Isapof A, Le Goff L, Desguerre I, Quijano-Roy S, Grimaldi L, French SMA Registry Study Group.   +18 more
europepmc   +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

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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

Chronic childhood spinal muscular atrophies in Algeria

Journal of the Neurological Sciences, 1990
Meriem Tazir, Charles Geronimi
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

Childhood spinal muscular atrophy: controversies and challenges

The Lancet Neurology, 2012
Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations of the survival of motor neuron 1 gene SMN1. The severity of spinal muscular atrophy is highly variable and no cure is available at present.
Mercuri, Eugenio Maria, Bertini, E, Iannaccone, St   +2 more
openaire   +3 more sources