Results 121 to 130 of about 8,039 (253)

Methodology and Design of a National Epidemiological Study on Adult Neuromuscular Disease [PDF]

, 2014
Stela Lefter, Orla Hardiman, Aisling Ryan   +2 more
openalex   +1 more source

Negative-Pressure Ventilation in Neuromuscular Diseases in the Acute Setting [PDF]

, 2022
Anna Annunziata, Cecilia Calabrese, Francesca Simioli, Antonietta Coppola, Martina Flora, Antonella Marotta, Valentina Di Spirito, Francesco Didonna, Marcellino Cicalese, Giuseppe Fiorentino   +9 more
openalex   +1 more source

Queuine ameliorates impaired mitochondrial function caused by mt-tRNAAsn variants

Journal of Translational Medicine
Background Mitochondrial tRNA (mt-tRNA) variants have been found to cause disease. Post-transcriptional queuosine (Q) modifications of mt-tRNA can promote efficient mitochondrial mRNA translation.
Yan Lin, Jiayin Wang, Xingyu Zhuang, Ying Zhao, Wei Wang, Dongdong Wang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji   +8 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Neuromuscular Disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
David Pleasure, Shawn Bird, Steven Scherer, John Sladky, Donald Schotland   +4 more
openaire   +2 more sources

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

Angewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu, Yufan Zhang, Hanwen Yu, Da Wang, Xinyue Zhang, Xiaowen Du, Shanshan Wu, Bingzhi Li, Yizhou Zhang, Hongliang Xin, Xing Guo, Yan Liu   +11 more
wiley   +2 more sources

Neuromuscular Diseases [PDF]

Archives of Disease in Childhood, 1989
openaire   +1 more source

A Rare Neuromuscular Disease: Limb-girdle Muscular Dystrophy-R18 Case Report

, 2022
Gülce Coşku Yılmaz Çakan, Ebru Bölük, Yaprak Seçıl, Aslı Subaşıoğlu, Özgür Tosun   +4 more
openalex   +1 more source

Spatiotemporal analysis of dystrophin expression during muscle repair

Skeletal Muscle
Background Dystrophin mRNA is produced from a very large genetic locus and transcription of a single mRNA requires approximately 16 h. This prolonged interval between initiation and completion results in unusual transcriptional behaviour: in skeletal ...
John C.W. Hildyard, Liberty E. Roskrow, Dominic J. Wells, Richard J. Piercy   +3 more
doaj   +1 more source