Results 81 to 90 of about 30,318 (229)

Charcot‐Marie‐Tooth disease in children

Annals of the Child Neurology Society
Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals ...
Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan   +4 more
doaj   +1 more source

Differentiating Charcot–Marie–Tooth disease from chronic inflammatory demyelinating polyradiculoneuropathy: neurophysiology is not the only clue [PDF]

, 2023
Claudia Sommer
openalex   +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, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Charcot-Marie-Tooth Disease Subtypes and Genetics

Pediatric Neurology Briefs, 2011
Researchers at Wayne State University School of Medicine, Detroit, MI, identified distinguishing clinical and physiological features of subtypes of Charcot-Marie-Tooth (CMT) disease among 787 patients that could be used to direct genetic testing.
J Gordon Millichap
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
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, Alexander Schulz, Christian Hagel, Robert Büttner, Michael Reuter, Waylan K. Bessler, D. Wade Clapp, Helen Morrison   +7 more
wiley   +1 more source

CHARCOT-MARIE-TOOTH DISEASE

Zdravniški Vestnik, 2003
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis, Janez Zidar, Borut Peterlin   +2 more
doaj  

Rehabilitation in Charcot-Marie-Tooth disease type 1

Advances in Clinical Neuroscience & Rehabilitation, 2014
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome ...
Manoj Mannil, Chandini Kadian, Elisabeth Futterlieb, Michael W Sereda   +3 more
doaj   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

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, Abbot, Allen, Babault, Behm, Behm, Behm, Belanger, Bigland-Ritchie, Blimkie, Carolan, Deschenes, Gandevia, Gossen, Guissard, Herbert, Jewell, Kellis, Kent-Braun, Klein, Krevolin, Kubo, Lipold, Loring, Maganaris, Martin, Merton, Muraoka, Newman, Onambele, Pearson, Pearson, Reeves, Reeves, Todd, Yehuda   +35 more
core   +4 more sources