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Research article

First published 2022

Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai,India

Satish Vasant Khadilkar, Hiral Amrut Halani, Rashna Dastur [...]

Journal of Neuromuscular Diseases

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Research article

First published 2019-11

Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing

Marita Knudsen Pope, Aleksandra Ratajska, Hilde Johnsen [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2016-8

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Leslie Hotchkiss, Sandra Donkervoort, Meganne E. Leach [...]

Journal of Child Neurology

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Other

First published 2006-01

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

Velina Guergueltcheva, Ivailo Tournev, Veneta Bojinova [...]

Journal of Child Neurology

Open access

Review article

First published 2024

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

Wireko Andrew Awuah, Joecelyn Kirani Tan, Anastasiia D Shkodina [...]

Sage Open Medicine

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Review article

First published 1995-09

Topical Review: Clinical Aspects of Hereditary Ataxias

S.H. Subramony

Journal of Child Neurology

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Review article

First published 2026

The molecular and genetic mechanisms of the vestibular disorders: A mini review

Xiaoge Jiang, Dong Liu, Fuping Qian

Journal of Vestibular Research

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Case report

First published 2021-2

Hereditary spastic paraplegia: An “ears of the lynx” magnetic resonance imaging sign in a patient with recessive genetic type 11

Emiliano Ruiz Romagnoli, Manuel Perez Akly, Luis A Miquelini [...]

The Neuroradiology Journal

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Research article

First published 2007-06

Risk Reduction and Health Promotion Behaviors Following Genetic Testing for Adult-Onset Disorders

Theresa A. Beery, Janet K. Williams

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2025

Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report

Sydney B. Bhopatkar, Juebin Huang

Journal of Investigative Medicine High Impact Case Reports

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