Results 201 to 210 of about 9,606,287 (373)

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

Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease [PDF]

, 2000
Anita K. Simonds, Sally L. Davidson Ward, S. Heather, Andrew Bush, F. Muntoni   +4 more
openalex   +1 more source

Participation amongst people ageing with neuromuscular disease: a qualitative study of lived experiences

, 2021
Louise Abildgaard Møller, Bente Martinsen, Ulla Werlauff, Pia Dreyer   +3 more
openalex   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Editorial: Stem cell therapy for hereditary neuromuscular diseases. [PDF]

Front Cell Dev Biol
Goto K, Asakura A.
europepmc   +1 more source

Feline Neuromuscular Diseases

Journal of Feline Medicine and Surgery, 2001
openaire   +2 more sources

Molecular adaptations of neuromuscular disease‐associated proteins in response to eccentric exercise in human skeletal muscle

, 2002
Léonard Feasson, Daniel Stockholm, Damien Freyssenet, Isabelle Richard, Stéphanie Duguez, J. Beckmann, Christian Denis   +6 more
openalex   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

The Diagnostic Potential of Urinary Titin Fragment in Neuromuscular Diseases. [PDF]

Int J Mol Sci
Sipos A, Varga D, Pál E.
europepmc   +1 more source

Metabolic Syndrome in Ambulatory People With Post–Polio Syndrome, Charcot-Marie-Tooth Disease, and Other Neuromuscular Diseases

Eric L. Voorn, Sander Oorschot, Nicolette Wierdsma, Maarten R. Soeters, Fieke Sophia Koopman, Annerieke C. van Groenestijn   +5 more
openalex   +1 more source