相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Majida Charif et al.
NEUROLOGY-GENETICS (2020)
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
Samuel Shribman et al.
LANCET NEUROLOGY (2019)
Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways
Matthis Synofzik et al.
MOVEMENT DISORDERS (2017)
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Rebecca Schuele et al.
ANNALS OF NEUROLOGY (2016)
New Practical Definitions for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Julie Pilliod et al.
ANNALS OF NEUROLOGY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
C. Bettencourt et al.
CLINICAL GENETICS (2014)
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Temistocle Lo Giudice et al.
EXPERIMENTAL NEUROLOGY (2014)
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Gaia Novarino et al.
SCIENCE (2014)
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
John K. Fink
ACTA NEUROPATHOLOGICA (2013)
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy
E. Gregianin et al.
EUROPEAN JOURNAL OF NEUROLOGY (2013)
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort
Koen L. I. van Gassen et al.
BRAIN (2012)
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Josef Finsterer et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
T. Gasser et al.
EUROPEAN JOURNAL OF NEUROLOGY (2010)
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1
David A. Parfitt et al.
HUMAN MOLECULAR GENETICS (2009)
分享论文
