Results 81 to 90 of about 29,182 (218)
Journal of Medical Case ReportsBackground Charcot–Marie–Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits ...
Salhadin Mohammed +4 more
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The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases [PDF]
, 2014 Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders.
Andressa Ferreira Lacerda +8 more
core +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
POLG1 Mutations and Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2008 A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
doaj +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 +4 more
core +1 more source
Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice
Annals of Neurology, Volume 99, Issue 2, Page 369-381, February 2026.[Color figure can be viewed at www.annalsofneurology.org] rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury.
Julia P. Bischoff +7 more
wiley +1 more source
Prevalence and orthopedic management of foot and ankle deformities in Charcot Marie Tooth disease [PDF]
, 2006 Introduction/Aims: We aimed to determine whether specific severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) vaccines may be associated with acute-onset polyradiculoneuropathy and if they may result in particular clinical presentations. Methods:
Aagaard +35 more
core +4 more sources
Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis
Respiratory Medicine Case ReportsCharcot-Marie-Tooth is an inherited disorder involving multiple genes, causing progressive nerve damage affecting sensation and movement. The complexity of the condition often leads to various possible diagnoses along with neuropathic diseases, sometimes
Seyed Hossein Mirlohi +2 more
doaj +1 more source
Neurofilament phosphoforms: Surrogate markers for axonal injury, degeneration and loss [PDF]
, 2005 This review on the role of neurofilaments as surrogate markers for axonal degeneration in neurological diseases provides a brief background to protein synthesis, assembly, function and degeneration.
Petzold, A
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Advances in Laboratory Medicine, 2020 Describimos un caso con enfermedad de Charcot Marie Tooth axonal tipo 2W, trastorno neurólogico caracterizado por una neuropatía periférica, que afecta principalmente a las extremidades inferiores y provoca dificultades en la marcha y deterioro sensitivo-
Lahoz Alonso Raquel +5 more
doaj +1 more source