Results 81 to 90 of about 47,101 (300)

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]

, 2020
Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +3 more
core   +2 more sources

X-linked Charcot-Marie-Tooth Disease [PDF]

Journal of the Peripheral Nervous System, 2005
AbstractThe X‐linked form of Charcot‐Marie‐Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
Scherer, Steven S., Kleopa, Kleopas A.
openaire   +3 more sources

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]

, 2012
Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah, Jean, Steve, Kiger, Amy, Robinson, Fred L, Schmidt, Eric J   +4 more
core   +1 more source

Bilateral Focused Ultrasound Thalamotomy for Essential Tremor: Clinical Outcomes Compared to Bilateral Deep Brain Stimulation and Probabilistic Lesion Mapping

Movement Disorders, EarlyView.
Abstract Background The efficacy and adverse events (AEs) of bilateral magnetic resonance‐guided focused ultrasound (MRgFUS) thalamotomies for essential tremor (ET) have not been compared to those of deep brain stimulation (DBS). Furthermore, it is uncertain whether second‐side thalamotomies can be positioned differently from the first without ...
Can Sarica, Kazuaki Yamamoto, Christian Iorio‐Morin, Jurgen Germann, Andrew Z. Yang, Brendan Santyr, Michael Colditz, Artur Vetkas, Anton Fomenko, Benjamin Davidson, Franziska Schmidt, Talyta Grippe, Nardin Samuel, Ajmal Zemmar, Oliver Flouty, Cletus Cheyuo, Ghazaleh Darmani, Robert Chen, Alexandre Boutet, Clemens Neudorfer, Mojgan Hodaie, Suneil K. Kalia, Renato P. Munhoz, Alfonso Fasano, Andres M. Lozano   +24 more
wiley   +1 more source

DomainScope: A disease network based on protein domain connections [PDF]

arXiv, 2019
Protein domains are highly conserved functional units of proteins. Because they carry functionally significant information, the majority of the coding disease variants are located on domains. Additionally, domains are specific units of the proteins that can be targeted for drug delivery purposes.
arxiv  

DOENÇA DE CHARCOT-MARIE-TOOTH: RELATO DE CASO [PDF]

, 2019
A doença de Charcot-Marie-Tooth é uma das moléstias mais frequentes do sistema nervoso periférico caracterizada por atrofia muscular, de predomínio distal nos membros inferiores, associada a déficit de força muscular, hipoestesia e diminuição dos ...
Moscoso Naveira, Marcelo Contardo, Naveira, Miguel Angelo Moscoso, Torres, Leandro de Figueiredo   +2 more
core   +1 more source

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease [PDF]

, 2016
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date.
Bhandari, T, Bray, P, Burns, J, Cornett, KM, Eichinger, KJ, Estilow, T, Finkel, RS, Foscan, M, Halaki, M, Herrmann, DN, Inherited Neuropathies Consortium, Laurá, M, Menezes, MP, Moroni, I, Muntoni, F, Pagliano, E, Pareyson, D, Reilly, MM, Shy, ME, Shy, RR, Sowden, J, Yum, SW   +21 more
core   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Early Onset Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2005
The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT) in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.
J Gordon Millichap
doaj   +1 more source