Results 161 to 170 of about 198,800 (341)

Respiratory muscle strength and gas exhange in neuromuscular diseases: Comparison with chronic pulmonary emphysema and idiopathic pulmonary fibrosis.

, 1989
Yoshihiro Nishimura, Wataru Hida, Osamu Taguchi, Makoto Sakurai, Masakazu Ichinose, Hiroshi Inoue, Tamotsu Takishima   +6 more
openalex   +2 more sources

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +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

Neuromuscular function of the human lower oesophageal sphincter in reflux disease and Barrett's oesophagus [PDF]

, 2000
Scott D. Smid
openalex   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Phosphomannosyl receptors of lysosomal enzymes of skeletal muscle in neuromuscular diseases

, 1988
Antero Salminen, Varpu Marjomäki, U. Tolonen, Vilho V. Myllylä   +3 more
openalex   +1 more source

Mycophenolate mofetil: A safe and promising immunosuppressant in neuromuscular diseases [PDF]

, 2001
Vinay Chaudhry, David R. Cornblath, John W. Griffin, Richard M. O’Brien, D. B. Drachman   +4 more
openalex   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +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

Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Tofersen is the first effective and approved therapy for superoxide dismutase 1 (SOD1)‐associated amyotrophic lateral sclerosis (ALS [SOD1‐ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospinal fluid (CSF) and serum seem to respond earlier than clinical parameters.
Christina Steffke, Karthik Baskar, Franziska Bachhuber, Maximilian Wiesenfarth, Johannes Dorst, Joachim Schuster, Florian Schöberl, Peter Reilich, Martin Regensburger, Alexander German, René Günther, Maximilian Vidovic, Susanne Petri, Thomas Meyer, Tim Hagenacker, Julian Grosskreutz, Ute Weyen, Patrick Weydt, Thomas Haarmeier, Paul Lingor, Joachim Wolf, Andreas Hermann, Johannes Prudlo, Kornelia Günther, Antje Knehr, Zeynep Elmas, Zeljko Uzelac, Simon Witzel, Wolfgang Philipp Ruf, Axel Freischmidt, Ritchie Ho, Albert C. Ludolph, Jochen H. Weishaupt, Hayrettin Tumani, Patrick Oeckl, David Brenner, Alberto Catanese   +36 more
wiley   +1 more source