Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum-Reference-Cited by-同舟云学术

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Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Published:2011-01 Issue:1 Volume:54 Page:82-85
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Aleem Alice Abdel,Abu-Shahba Nourhan,Swistun Dominika,Silhavy Jennifer,Bielas Stephanie L.,Sattar Shifteh,Gleeson Joseph G.,Zaki Maha S.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference18 articles.

1. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism;Anheim;J. Neurol.,2009

2. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc. Natl. Acad. Sci. U.S.A.,2009

3. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families;Coutinho;Arch. Neurol.,1999

4. SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation;Del Bo;Neurogenetics,2007

5. Hereditary spastic paraplegia overview;Fink,2009

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1. A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans;Orphanet Journal of Rare Diseases;2022-03-24

2. AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant;Journal of Applied Genetics;2020-03-12

3. Hereditary spastic paraplegia: classification, clinical and genetic characteristics;Yakut Medical Journal;2020

4. Genome-wide association study in two populations to determine genetic variants associated with Toxoplasma gondii infection and relationship to schizophrenia risk;Progress in Neuro-Psychopharmacology and Biological Psychiatry;2019-06

5. Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression;Journal of the Neurological Sciences;2017-10

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