Results 191 to 200 of about 1,729 (232)

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   +4 more sources

Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy

Neuromuscular Disorders, 1996
We have conducted a retrospective study of 63 patients affected by chronic forms of spinal muscular atrophy (SMA) to better document the natural history of this disease. Thirty-nine patients had type II and 24 type III SMA. These patients had manual muscle testing (MMT) and forced vital capacity (FVC) studies done every six to 12 months over follow up ...
F, Souchon, L R, Simard, S, Lebrun, C, Rochette, J, Lambert, M, Vanasse   +5 more
openaire   +2 more sources

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population

Human Molecular Genetics, 1994
Spinal muscular atrophy (SMA) is, after Duchenne muscular dystrophy, the most common neuromuscular disorder in childhood. The gene responsible for childhood SMA has been mapped to the q11.2-q13.3 region of chromosome 5. We have extended our linkage studies of SMA in the French-Canadian population to include microsatellite markers at the D5S125, D5S351,
L R, Simard, G, Prescott, C, Rochette, K, Morgan, B, Lemieux, J, Mathieu, S B, Melançon, M, Vanasse   +7 more
openaire   +2 more sources

Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

American journal of human genetics, 1994
Autosomal recessive and dominant inheritance of proximal spinal muscular atrophy (SMA) are well documented. Several genetic studies found a significant deviation from the assumption of recessive inheritance in SMA, with affected children in one generation.
S, Rudnik-Schöneborn, B, Wirth, K, Zerres   +2 more
openaire   +1 more source

Chronic from of childhood spinal muscular atrophy

Journal of the Neurological Sciences, 1979
Irena Hausmanowa-Petrusewicz, Jacek Zaremba, Janina Borkowska   +2 more
openaire   +1 more source

Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood.

Ortopedia, traumatologia, rehabilitacja, 2012
Summary. Progressive scoliosis with increasing pelvic obliquity in early childhood of patients with SMA type II is a common feature in this disease. Spinal surgery in muscle disorders should be carried out as soon as a progressive curve of more then 20 Celsius Cobb and a preserved FVC of 20-30% is proved.
Albert, Fujak, Anne, Ingenhorst, Katja, Heuser, Raimund, Forst, Jürgen, Forst   +4 more
openaire   +1 more source

Oncologic emergencies and urgencies: A comprehensive review

Ca-A Cancer Journal for Clinicians, 2022
Bonnie Gould Rothberg, David E Gerber, Jason J Bischof   +2 more
exaly  

A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases.

Journal of the neurological sciences, 1978
The case histories and clinical details of 141 children (67 males and 74 females) with chronic childhood spinal muscular atrophy (SMA) have been reviewed. Hundred of these children were alive at the time of the study. The cases comprise a consecutive unselected series of all with this disease who presented to two large English neurological centres over
J H, Pearn, D, Gardner-Medwin, J, Wilson
openaire   +1 more source

Drug delivery to the central nervous system

Nature Reviews Materials, 2021
, Suzie H Pun
exaly  

Regulation of axonal regeneration after mammalian spinal cord injury

Nature Reviews Molecular Cell Biology, 2023
Binhai Zheng, Mark H Tuszynski
exaly