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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Letter: Diagnosis of childhood spinal muscular atrophy. [PDF]
BMJ, 1973 Brian Neville
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The Neurobiology of Childhood Spinal Muscular Atrophy
Neurobiology of Disease, 1996 Thomas O. Crawford, Carlos A. Pardo
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PROGRESSIVE SPINAL MUSCULAR ATROPHY IN INFANCY AND CHILDHOOD
Acta Neurologica Scandinavica, 2009 Ingrid Gamstorp
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Comment on SMN2 deletion in childhood‐onset spinal muscular atrophy [PDF]
American Journal of Medical Genetics, 2002 Shuji Ogino +2 more
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Atrofia muscular espinhal tipo II (intermediária) e III (Kugelberg-Welander): evolução de 50 pacientes com fisioterapia e hidroterapia em piscina [PDF]
, 1996 We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA) who were being treated with individual conventional physiotherapy. Hydrotherapy was performed at an approximate temperature of 30 degrees Celsius, twice a week, for thirty minutes in
Cunha, Márcia C. B. +3 more
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Research progress of spinal muscular atrophy treatment in children
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO +3 more
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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
Annals of Clinical and Translational Neurology, 2020 Background Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis.
Ana T. Marcos +8 more
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Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]
, 2014 As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
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