Results 11 to 20 of about 2,725,444 (278)

Genetics of childhood spinal muscular atrophy. [PDF]

open access: bronzeJournal of Medical Genetics, 1971
E.J.T. Winsor   +3 more
openalex   +5 more sources

Comment on SMN2 deletion in childhood‐onset spinal muscular atrophy [PDF]

open access: bronzeAmerican Journal of Medical Genetics, 2002
Shuji Ogino   +2 more
openalex   +3 more sources

Atrofia muscular espinhal tipo II (intermediária) e III (Kugelberg-Welander): evolução de 50 pacientes com fisioterapia e hidroterapia em piscina [PDF]

open access: yes, 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
core   +4 more sources

Spinal Muscle Atrophy Disease Modelling as Bayesian Network [PDF]

open access: yesJournal of Physics: Conference Series 2128 (2021) 012015, 2023
We investigate the molecular gene expressions studies and public databases for disease modelling using Probabilistic Graphical Models and Bayesian Inference. A case study on Spinal Muscle Atrophy Genome-Wide Association Study results is modelled and analyzed.
arxiv   +1 more source

Spinal Muscle Atrophy (SMA) in a 5 Years Old Girl from Macedonia: Case Report

open access: yesAsian Journal of Pediatric Research, 2023
Spinal muscular atrophies are inherited diseases in which nerve cells in the spinal cord and brainstem regress, causing progressive muscle weakness and wasting.
S. Bittmann   +3 more
semanticscholar   +1 more source

Confirmation of Clinical Diagnosis in Requests for Prenatal Prediction of SMA Type I [PDF]

open access: yes, 1993
The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born.
Buys, CHCM   +7 more
core   +6 more sources

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