Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia-Reference-Cited by-同舟云学术

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Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

Published:2017-06-01 Issue:8 Volume:88 Page:681-687
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Chelban Viorica,Tucci Arianna,Lynch David S,Polke James M,Santos Liana,Jonvik Hallgeir,Groppa Stanislav,Wood Nicholas W,Houlden Henry

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference40 articles.

1. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders;Hamosh;Nucleic Acids Res,2005

2. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance;Finsterer;J Neurol Sci,2012

3. Hereditary “pure” spastic paraplegia: a clinical and genetic study of 22 families;Harding;J Neurol Neurosurg Psychiatry,1981

4. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms;Lo Giudice;Exp Neurol,2014

5. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders;Novarino;Science,2014

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2. Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery;Current Biology;2024-04

3. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia;Movement Disorders;2024-01-31

4. Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations;Frontiers in Neurology;2023-12-07

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