Results 61 to 70 of about 26,653 (213)

Connexin32 and X-linked Charcot–Marie–Tooth Disease

Neurobiology of Disease, 1997
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein.
Linda Jo Bone, Suzanne M. Deschênes, Rita J. Balice-Gordon, Kenneth H. Fischbeck, Steven S. Scherer   +4 more
doaj   +1 more source

Small heat-shock proteins: important players in regulating cellular proteostasis [PDF]

, 2015
Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone proteins that play a critical role in mitigating and preventing protein aggregation under stress conditions such as elevated temperature, oxidation and infection.
Carver, John A., Ecroyd, Heath, Meehan, Sarah, Treweek, Teresa M.   +3 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Evaluating the peripheral nervous system pathology of Alzheimer's disease utilizing a functional human NMJ microphysiological system

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Alzheimer's Disease (AD) is a central nervous system (CNS) neurodegenerative disease leading to dementia, but can also show symptoms of motor deficits. It is not clear whether the peripheral motor deficits in AD are derived from upstream centers or intrinsic to the neuromuscular circuit.
Akhmetzada Kargazhanov, Romy Aiken, Kenneth Hawkins, Rafael Lopez, Ahmad Nawaz, Gaurav Srivastava, Chase Miller, Will Bogen, Christopher Long, David Morgan, Xiufang Guo, James Hickman   +11 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene

Stem Cell Research
(Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a
Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Sabal Al Hadidi, Dema Ali, Ahmed A. Abdulelah, Adan Madadha, Amira Masri, Abdalla Awidi   +8 more
doaj   +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

Upgrade on the orthopedic approach in Charcot-Marie-Tooth diseases [PDF]

, 2018
[Resumen] Objetivos Este artículo pretende ofrecer una síntesis acerca de las principales características de la intervención y abordaje de las complicaciones del pie en personas afectadas por las enfermedades de Charcot-Marie-Tooth.
Garabal-Barbeira, Jessica, Groba, Betania, Nieto-Riveiro, Laura, Pazos, A., Pereira-Loureiro, Javier, Pousada, Thais   +5 more
core   +3 more sources

Hand Involvement in Charcot-Marie-Tooth Disease 1A

Pediatric Neurology Briefs, 2008
Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
doaj   +1 more source

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis [PDF]

, 2014
BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease.
Bacon, C, Bundy, B, Burns, J, Day, J, Feely, S, Finkel, RS, Fridman, V, Grider, T, Herrmann, DN, Kirk, CA, Laurá, M, Li, J, Lloyd, T, Moroni, I, Muntoni, F, Pagliano, E, Pareyson, D, Piscosquito, G, Ramchandren, S, Reilly, MM, Scherer, SS, Shy, ME, Shy, R, Siskind, CE, Sumner, CJ, Yum, SW, Zuchner, S   +26 more
core   +1 more source

Variant Prioritization by Pedigree‐Based Haplotyping

Genetic Epidemiology, Volume 50, Issue 3, April 2026.
ABSTRACT Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non‐coding regions, is a challenge.
Rafael A. Nafikov, Harkirat K. Sohi, Alejandro Q. Nato Jr., Andrea R. Horimoto, Tyler R. C. Day, Thomas D. Bird, Anita L. DeStefano, Elizabeth E. Blue, Ellen M. Wijsman   +8 more
wiley   +1 more source