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Last Updated: 03/06/2025
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Found 2017 publications
AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.
Journal: Genes
Published: December 03, 2024
Successful application of preimplantation genetic testing combined with thirdgeneration sequencing for blocking hereditary spastic paraplegia
Journal: Nan fang yi ke da xue xue bao = Journal of Southern Medical University
Published: December 02, 2024
Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study.
Journal: Neurology
Published: December 02, 2024
Cell type-specific gene therapy confers protection against motor neuron disease caused by a TFG variant.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 11, 2024
Phenotype and Genotype of Children with ALS2 gene-Related Disorder.
Journal: Neuropediatrics
Published: October 18, 2024
Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study.
Journal: European journal of neurology
Published: October 13, 2024
Designing and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL).
Journal: Cerebellum (London, England)
Published: October 07, 2024
Alteration in ornithine metabolism due to mutation in ALDH18A1 masquerading as ALS in pregnancy.
Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: October 03, 2024
Inherited white matter disorders: Hypomyelination (myelin disorders).
Journal: Handbook of clinical neurology
Published: September 25, 2024
KIF5A regulates axonal repair and time-dependent axonal transport of SFPQ granules and mitochondria in human motor neurons.
Journal: Neurobiology of disease
Published: September 20, 2024
Last Updated: 03/06/2025