Results 251 to 260 of about 2,481 (285)

A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases

Brain and Development, 1994
The aim of this study is to evaluate 75 patients affected by childhood-onset spinal muscular atrophy (SMA), using the diagnostic criteria and classification recently suggested by the International SMA Collaboration Consortium. Sex predominance, age of onset, clinical evaluation and other relevant clinical data of the disease are reported.
Parano E, FIUMARA, Agata, Falsaperla R, Pavone L.   +3 more
openaire   +5 more sources

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

Human Genetics, 1990
This study provides epidemiological data on acute infantile (ASMA) and chronic childhood spinal (CSMA) muscular atrophy in Warsaw for the period 1976-1985. All calculations are based on the assumption that ASMA and CSMA result from mutations at two different gene loci.
Aribert W. J. Spiegler, Anna Kłopocka, Irena Hausmanowa-Petrusewicz, Janina Borkowska   +3 more
openaire   +3 more sources

Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy

Brain and Development, 1994
A female child of healthy parents developed rotary nystagmus at the age of 15 months. Ophthalmoscopy disclosed incomplete optic atrophy. Blood tests, EEG and CT scans were normal. At 20 months progressive muscular weakness and wasting with limb-girdle distribution commenced, followed later by disturbance of gait.
Horst P. Schmitt, Michael Ha¨rle, W. Koelfen, Karl-Heinz Nissen   +3 more
openaire   +2 more sources

Minipolymyoclonus

Neurology, 1970
SUMMARYMinipolymyoclonus is a descriptive term for a movement disorder observed in the relatively benign form of childhood spinal muscular atrophy. When present, these movements are useful in differentiating this group of disorders from myopathies.
openaire   +2 more sources

P1.59 Pre-diagnostic parent experiences in Duchenne and Becker muscular dystrophies, congenital muscular dystrophies, and spinal muscular atrophies: A survey of the national task force for the early identification of childhood neuromuscular disorders

Neuromuscular Disorders, 2011
H. Peay, K. Mathews
semanticscholar   +1 more source

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

Journal of Neurological Sciences, 1995
C. Soubrouillard, J. Pellissier, H. Lepidi, J. Mancini, G. Rougon, D. Figarella-Branger   +5 more
semanticscholar   +1 more source

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

Nature, 1990
J. Melki, S. Abdelhak, P. Sheth, M. Bachelot, P. Burlet, A. Marcadet, J. Aicardi, A. Barois, J. Carriere, M. Fardeau, D. Fontán, G. Ponsot, T. Billette, C. Angelini, C. Barbosa, G. Ferrière, G. Lanzi, A. Ottolini, M. Babron, D. Cohen, A. Hanauer, F. Clerget-Darpoux, M. Lathrop, A. Munnich, J. Frézal   +24 more
semanticscholar   +1 more source

CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES

The Lancet, 1980
J. Pearn
semanticscholar   +1 more source

Spinal muscular atrophies: recent insights and impact on molecular diagnosis

Journal of molecular medicine, 1996
C. Brahe, Enrico Bertini
semanticscholar   +1 more source

Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies

Clinical Chemistry and Laboratory Medicine, 1998
N. Barišić, J. Sertić, C. Billi, I. Barić, V. Sarnavka, T. Babić, P. Hrabac, D. Begović, L. Florentin, A. Stavljenic-Rukavina   +9 more
semanticscholar   +1 more source