Results 71 to 80 of about 26,653 (213)

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

PDXK‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We report a patient carrying a novel missense variant c.826G>C, p.(Ala276Pro) found in compound heterozygous state with a previously reported variant in the PDXK gene. In silico analysis and our functional studies showed that the novel variant disrupts splicing, which leads to degradation of the aberrant transcript, thereby extending the known disease ...
Dmitrii Subbotin, Daria Akimova, Elena Dadali, Kristina Mikhalchuk, Artem Borovikov, Vitaly Kadyshev, Mikhail Skoblov, Aysylu Murtazina   +7 more
wiley   +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

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

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

Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition

The Turkish Journal of Pediatrics, 2019
We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy ...
Maria Gogou, Efterpi Pavlidou, Evangelos Pavlou, Theodotis Papageorgiou, Athanasios Tragiannidis, Andreas Giannopoulos, Emmanuel Hatzipantelis   +6 more
doaj   +1 more source

Impaired Function is a Common Feature of Neuropathy‐Associated Glycyl‐t RNA Synthetase Mutations [PDF]

, 2014
C harcot– M arie– T ooth disease type 2 D ( CMT 2 D ) is an autosomal‐dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities.
Antonellis, Anthony, Gonzalez, Michael A., Griffin, Laurie B., Hou, Ya‐ming, McGuigan, David, Sakaguchi, Reiko, Searby, Charles, Züchner, Stephan   +7 more
core   +2 more sources

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

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, Andrzej Kochański, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Beata Sokołowska, Craig R. Brunetti, Dagmara Kabzińska, Elena Sinkiewicz-Darol, Irena Hausmanowa-Petrusewicz   +8 more
core   +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