Results 31 to 40 of about 39,521 (156)
The TUDOR domain of SMN is an H3K79 me1 histone mark reader
Life Science Alliance, 2023 The survival of motor neuron (SMN) protein is depleted in spinal muscular atrophy (SMA) pathology and herein defined as the first reader of histone H3 mono-methylated on lysine 79 through its central TUDOR domain.
Olivier Binda +7 more
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Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]
The Indian Anaesthetists' Forum, 2006 We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
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Хирургия позвоночника, 2020 Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data. Material and Methods.
Sergey O. Ryabykh +8 more
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Insights into spinal muscular atrophy from molecular biomarkers
Neural Regeneration ResearchSpinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving
Xiaodong Xing +8 more
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A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus
Clinical Neurophysiology Practice, 2017 Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue +6 more
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Case Reports in Medicine, 2018 Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch +3 more
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The impact of neurological impairment and tone on hip joint development
Journal of Children's OrthopaedicsPurpose: The purpose of this study was to define how different force environments by neuromuscular diagnosis (hypertonic versus hypotonic) impact the growth and morphology of the proximal femoral and acetabular regions relative to typically developing ...
Sadettin Ciftci +4 more
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Archives of Health Science and ResearchObjective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers.
Seval KUTLUTÜRK-YIKILMAZ +3 more
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Spinal Muscular Atrophy and Arthrogryposis
Pediatric Neurology Briefs, 1997 Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
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Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease) [PDF]
Archives of the Balkan Medical Union, 2018 Introduction. Spinal muscular atrophy type 1 is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and atrophy.
Mariana A. RYZNYCHUK +4 more
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