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Last Updated: 10/31/2025
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Found 559 publications
Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.
Journal: Journal of neurology
Published: June 02, 2025
Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.
Journal: Journal of the peripheral nervous system : JPNS
Published: April 01, 2025
Basic Pathological Mechanisms in Peripheral Nerve Diseases.
Journal: International journal of molecular sciences
Published: February 26, 2025
Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian Family.
Journal: Cerebellum (London, England)
Published: January 25, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
Journal: The Lancet. Neurology
Published: January 07, 2025
Inherited Spinocerebellar Ataxia Segregates with Intra-Familial Genetic Heterogeneity in a Consanguineous Pakistani Family: A Report of a Potential Novel Candidate Gene.
Journal: DNA and cell biology
Published: November 07, 2024
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
Journal: Neurogenetics
Published: October 31, 2024
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
Journal: American journal of medical genetics. Part A
Published: August 18, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2024
Guillain-Barrè Syndrome-Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.
Journal: Medicina (Kaunas, Lithuania)
Published: August 01, 2024
The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.
Journal: Genes
Published: July 05, 2024
Last Updated: 10/31/2025