Results 61 to 70 of about 608,413 (188)
, 2011 Objective. Use of Denaturing High-Performance Liquid Chromatography ( DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods. Thirty-three members of 7 families participated in carrier test and disease detection of SMA.
蕭勝文;鄭博仁;張舜智;林玉婷;洪加政;陳持平;蘇怡寧 +1 more
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Carrier testing for spinal muscular atrophy.
, 2010 Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer
Crawford, Thomas O +14 more
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Frontiers in GeneticsA boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development.
Ewa Gajewska +5 more
doaj +1 more source
The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy [PDF]
This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA).
Boardman, Felicity K.
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Rehabilitation management for patients with spinal muscular atrophy: a review
Orphanet Journal of Rare DiseasesThe rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj +1 more source
Proximal spinal muscular atrophy: current orthopedic perspective
, 2013 Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Fujak A, Haaker G
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A Model for Spinal Muscular Atrophy Disease Registry for Iran [PDF]
PayeshObjective(s): Spinal muscular atrophy is a rare genetic disease of neuromuscular and it is considered the main cause of death of newborns, which affects spinal motor neurons.
Hadiseh Azadi Cheshmekabodi +2 more
doaj
Spinal Muscular Atrophy Genotype Distribution.
, 2013 Spinal Muscular Atrophy Genotype Distribution.
Chih-Chao Yang (160072) +10 more
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, 1995 Spinal Muscular Atrophy (SMA) is one of many neuromuscular diseases affect ing motor neurons and skeletal muscles. This disorder causes deterioration of the motor neurons (specifically the Anterior Horn Cells of the spinal cord). These motor neurons that
Nowak, Deborah
core +1 more source
Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes [PDF]
Spinal muscular atrophy (SMA) genes, SMN1 and SMN2 (hereinafter referred to as SMN1/2), produce multiple circular RNAs (circRNAs), including C2A–2B–3–4 that encompasses early exons 2A, 2B, 3 and 4.
Luo, Diou +3 more
core +2 more sources