Results 201 to 210 of about 1,729 (232)

[Spinal muscular atrophy in childhood. Possibilities and limits of clinical and molecular genetic diagnosis].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1994
The proximal spinal muscular atrophies (SMA) are a clinically and genetically heterogeneous group of neuromuscular disorders which are characterized by selective degeneration of motor neurons in the spine and brainstem. The clinical features resemble other muscle diseases, the diagnostic criteria of proximal SMA have recently been defined by the ...
K, Zerres, S, Rudnik-Schöneborn, D, Röhrig, B, Wirth   +3 more
openaire   +1 more source

A clinical study of chronic childhood spinal muscular atrophy

Journal of the Neurological Sciences, 1978
J.H. Pearn, D. Gardner-Medwin, J. Wilson
openaire   +1 more source

Proximal Spinal Muscular Atrophy of Childhood

2000
I. Hausmanowa-Petrusewicz, J. Zaremba
openaire   +1 more source

On chaos in classification of childhood spinal muscular atrophy

Neuromuscular Disorders, 1992
Irena Hausmanowa-Petrusewicz, Barbara Badurska-Modrzycka, Barbara Ryniewicz   +2 more
openaire   +1 more source

Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

Journal of the neurological sciences, 1980
The authors discuss the differences between the two large series of chronic childhood spinal muscular atrophies (SMA)--their own comprising 273 cases, and that of Pearn et al. comprising 141 cases. The main difference concerns the predominance of males in the clinically milder later-onset group in the present series. The data of Pearn et al. (1978a, b)
I, Hausmanowa-Petrusewicz, J, Zaremba, J, Borkowska   +2 more
openaire   +1 more source

Duchenne muscular dystrophy

Nature Reviews Disease Primers, 2021
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda   +2 more
exaly  

Progress Toward Cloning of the Gene Responsible for Childhood Spinal Muscular Atrophy

Seminars in Neurology, 1993
P W, Kleyn, T C, Gilliam
openaire   +2 more sources

Chaos in classification of the spinal muscular atrophies of childhood

Neuromuscular Disorders, 1991
openaire   +2 more sources

Activity-dependent spinal cord neuromodulation rapidly restores trunk and leg motor functions after complete paralysis

Nature Medicine, 2022
Andreas Rowald, Robin Demesmaeker, Edeny Baaklini   +2 more
exaly  

[Spinal muscular atrophy of late childhood].

Neurologija, 1979
D, Mirić, A, Jusić
openaire   +1 more source