Results 221 to 230 of about 2,725,444 (278)

A clinical study of chronic childhood spinal muscular atrophy

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
John Pearn, D. Gardner‐Medwin, John Wilson   +2 more
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Chronic childhood spinal muscular atrophy in Germany (West-Th�ringen) ? an epidemiological study

Human Genetics, 1994
This study presents the most extensive epidemiological data on chronic forms of spinal muscular atrophy in childhood (CSMA) in West-Thüringen in Germany. The incidence of CSMA was calculated to be 1 in 9,420 live births. The prevalence was 1.624 in 100,000 of the general population (as of 31 December 1980).
Andrea Thieme, Beate Mitulla, Friedemann Schulze, Aribert W. J. Spiegler   +3 more
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Progressive Spinal Muscular Atrophy with Onset in Infancy or Early Childhood

Acta Paediatrica, 1967
Ingrid Gamstorp
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On chaos in classification of childhood spinal muscular atrophy

Neuromuscular Disorders, 1992
I Hausmanowa-Pétrusewicz, Barbara Badurska-Modrzycka, Barbara Ryniewicz   +2 more
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Spinal Muscular Atrophy in Childhood

Developmental Medicine & Child Neurology, 1979
I Lesný
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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
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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).
J. Melki, S. Lefebvre, L. Burglen, P. Burlet, O. Clermont, P. Millasseau, S. Reboullet, B. Bénichou, Massimo Zeviani, D. Paslier   +9 more
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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).
Gabriella Porro, Pasquale Carboni, Claudio Coletta, Vincenzo Bacci, Carunchio A   +4 more
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SMN2 deletion in childhood‐onset spinal muscular atrophy

American Journal of Medical Genetics, 2002
Jan-Maarten Cobben, Marjolein Visser
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SMN2-deletion in childhood-onset spinal muscular atrophy

American Journal of Medical Genetics, 2001
The human genome has two homologous survival motor neuron genes, SMN1 and SMN2. Although deletions of SMN1 are frequently reported in childhood-onset spinal muscular atrophy (SMA), SMN2 have been found to be intact in patients with the disorder. We report on a 5-year-old boy with childhood-onset SMA who has a homozygous deletion of SMN2. He had wasting,
Inusha Panigrahi, Sunil Pradhan, Monisha Mukherjee, Sandhya Srivastava, Balraj Mittal, Gouri Shanker Pandey   +5 more
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