SPG 11 Mutations Associated With a Complex Phenotype Resembling Dopa‐Responsive Dystonia-Reference-Cited by-同舟云学术

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SPG 11 Mutations Associated With a Complex Phenotype Resembling Dopa‐Responsive Dystonia

Published:2015-04-28 Issue:2 Volume:2 Page:149-154
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Wijemanne Subhashie¹,Shulman Joshua M.¹²³⁴,Jimenez‐Shahed Joohi¹,Curry Daniel⁵,Jankovic Joseph¹

Affiliation:

1. Parkinson's Disease Center and Movement Disorders Clinic Department of Neurology Baylor College of Medicine Houston Texas USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

3. Department of Neuroscience Baylor College of Medicine Houston Texas USA

4. Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston Texas USA

5. Texas Children's Hospital Houston Texas USA

Funder

Caroline Weiss Law Fund

Burroughs Welcome Fund Career Award

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.12144

Reference33 articles.

1. Hereditary spastic paraplegia

2. Hereditary spastic paraplegia: clinical‐genetic characteristics and evolving molecular mechanisms;Lo Giudice T;Exp Neurol,2014

3. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

4. Cognitive Profile in Spastic Paraplegia with Thin Corpus Callosum and Mutations inSPG11

5. Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

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1. The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis;Journal of the Neurological Sciences;2024-04

2. Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11;Frontiers in Neuroscience;2024-02-16

3. Movement disorders in hereditary spastic paraplegias;Arquivos de Neuro-Psiquiatria;2023-11

4. Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis;Neurological Sciences;2022-11-28

5. SPG11 presenting with dystonic tremor in childhood;Parkinsonism & Related Disorders;2022-06

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