Results 21 to 30 of about 608,413 (188)

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]

Kosin Medical Journal, 2019
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj   +1 more source

Effect of Spinal Muscular Atrophy Awareness Sessions on Premarital Clients' Willingness to Perform Comprehensive SMA Genetic Testing [PDF]

Egyptian Journal of Health Care
Background: Premarital counselling in healthcare has a positive reflection on health and wellbeing of future families and inurn the whole community because it makes premarital clients feel energized, empowered with sufficient knowledge.
Nany Mohamed Erfan, Ayiat Allah Wagdy Farag, Hend Mohamed Elsayed Afefy, Eman Ebrahim Ahmed, Warda Abd-elmoaty Azab Yousef   +4 more
doaj   +1 more source

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Annals of Clinical and Translational Neurology, 2022
Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated.
Camilla Binz, Alma Osmanovic, Nele H. Thomas, Benjamin Stolte, Maren Freigang, Isabell Cordts, Ramona Griep, Zeljko Uzelac, Claudia D. Wurster, Christoph Kamm, Hannah A. Siegler, Gary Wieselmann, Andreas Hermann, Paul Lingor, Marcus Deschauer, Albert C. Ludolph, Thomas Meyer, René Günther, Tim Hagenacker, Susanne Petri, Olivia Schreiber‐Katz   +20 more
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Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
core   +1 more source

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth   +2 more
core   +1 more source

ELECTROENCEPHALOGRAPHIC ASSESSMENT OF CEREBRAL ACTIVITY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY

The Iraqi Journal of Medical Sciences, 2016
Background:Spinal muscular atrophies are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei.
Shaymaa J. Mohammed, Mazin M. Hammady
doaj   +4 more sources

Spinal Muscular Atrophy

Seminars in Neurology, 2001
The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding
Talbot, K, Davies, K
openaire   +3 more sources

Identifying epigenetic regulators of survival motor neuron protein to treat spinal muscular atrophy [PDF]

, 2022
Spinal muscular atrophy (SMA) is a rare monogenic disease of mostly paediatric onset, affecting approximately 1:8,000 – 10,000 live births. If untreated, it leads to progressive muscle weakness and paralysis, due to degeneration of lower α-motor neurons ...
Kordala, Anna
core   +1 more source

Spinal and Bulbar Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Christopher, Grunseich, Kenneth H, Fischbeck   +1 more
openaire   +2 more sources

Rehabilitation in spinal muscular atrophy

Medycyna Ogólna i Nauki o Zdrowiu, 2021
Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj   +1 more source