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Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study [PDF]
Annals of Clinical and Translational Neurology, 2019 Background Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical
Maryam Sedghi +9 more
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Segregation analysis of chronic childhood spinal muscular atrophy. [PDF]
Journal of Medical Genetics, 1978 A formal segregation analysis for the disease 'chronic childhood spinal muscular atrophy' is presented. This disease is also known as 'Kugelberg-Welander disease', 'arrested Werdnig-Hoffmann disease', and 'chronic proximal or generalised spinal muscular atrophy'. There were 124 index cases occurring in 115 families.
John Pearn
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Spinal muscular atrophy in childhood: Two clues to clinical diagnosis [PDF]
Archives of Disease in Childhood, 1973 A coarse tremor was noted in 13 children suffering from the childhood form of spinal muscular atrophy. Tremor has not been seen in any other condition producing proximal muscle weakness in childhood, and its presence should therefore suggest the diagnosis of spinal muscular atrophy. In addition, the feet of patients with spinal muscular atrophy tended
A. Moosa, Victor Dubowitz
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Motor nerve conduction velocity in spinal muscular atrophy of childhood. [PDF]
Archives of Disease in Childhood, 1976 The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected.
A. Moosa, Victor Dubowitz
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Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. [PDF]
Journal of Medical Genetics, 1978 A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander disease, SMA type II and III) was undertaken in north-east England to establish gene and carrier frequencies, incidence, and prevalence. The incidence of this disease was 1 in 24 100 live births.
John Pearn
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Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. [PDF]
Journal of Medical Genetics, 1984 Segregation analysis was performed on 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence (CPSMA) in the total series and in a number of subgroups formed according to the age at onset and sex. The analysis provided evidence of sex influence in the series studied, particularly in a subgroup of the milder form of the ...
I Hausmanowa-Pétrusewicz +3 more
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Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. [PDF]
Journal of Medical Genetics, 1995 Autosomal recessive childhood onset spinal muscular atrophy has been mapped to chromosome 5q13. We report the analysis of a polymorphic microsatellite which shows linkage disequilibrium with the disease. The linkage disequilibrium is observed with a null allele which is seen as the non-inheritance of alleles from one or both parents. The inheritance of
R.J. Daniels +9 more
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A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy [PDF]
European Journal of Human Genetics, 2014 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified into three types based on the age at which children present with symptoms and the clinical severity. Families' experiences leading up to the diagnosis have not been described, but are important when
Sally Lawton +4 more
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Spinal muscular atrophy of childhood: genetics [PDF]
Developmental Medicine & Child Neurology, 1997 F L Raymond MA DPhil MRCP.
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