Results 91 to 100 of about 49,167 (262)

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

Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program [PDF]

, 2009
OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante ...
ARAUJO, João E., FUZARO, Amanda C., HATA, Luciana, MARQUES JÚNIOR, Wilson, MENINGRONI, Paula C., NAKADA, Carolina S.   +5 more
core   +1 more source

Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: The past, the present and the future.

Translational research : the journal of laboratory and clinical medicine, 2020
Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, affecting 1/1500 to 1/10000. CMT1A represents 60-70% of all CMT and is caused by a duplication on chromosome 17p11.2 leading to an overexpression of the Peripheral Myelin ...
Suzan Boutary, A. Echaniz-Laguna, David Adams, J. Loisel-Duwattez, M. Schumacher, C. Massaad, L. Massaad-Massade   +6 more
semanticscholar   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Cavovarus deformity in Charcot-Marie-Tooth disease: is there a hindfoot equinus deformity that needs treatment? [PDF]

, 2015
Background: Charcot-Marie-Tooth disease (CMT), one of the most common hereditary neurologic disorders, often results in debilitating cavovarus foot deformities.
Beckmann, Nicholas A., Dreher, Thomas, Heitzmann, Daniel, Müller, Sebastian, Wallroth, Annika, Wolf, Sebastian I.   +5 more
core   +1 more source

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

Nature Communications, 2018
Dominant mutations in glycyl-tRNA synthetase (GlyRS) cause a subtype of Charcot-Marie-Tooth neuropathy (CMT2D). Although previous studies have shown that GlyRS mutants aberrantly interact with Nrp1, giving insight into the disease’s specific effects on ...
Zhongying Mo, Xiaobei Zhao, Huaqing Liu, Qing Hu, Xu-Qiao Chen, Jessica Pham, Na Wei, Ze Liu, Jiadong Zhou, R. Burgess, S. Pfaff, C. Caskey, Chengbiao Wu, G. Bai, Xiang-Lei Yang   +14 more
semanticscholar   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +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

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, Volume 109, Issue 4, Page 796-802, April 2026.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source