Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia
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Title
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume 61, Issue 6, Pages 571-573
Publisher
Springer Nature
Online
2016-02-18
DOI
10.1038/jhg.2016.6
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Related references
Note: Only part of the references are listed.- Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
- (2016) Victoria Álvarez et al. BMC Neurology
- Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
- (2015) Jaya Punetha et al. PEDIATRIC NEUROLOGY
- Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
- (2014) Typhaine Esteves et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
- (2014) Tahir Naeem Khan et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
- (2014) Temistocle Lo Giudice et al. EXPERIMENTAL NEUROLOGY
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
- (2013) Rita-Eva Varga et al. HUMAN MUTATION
- SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism
- (2012) Tatsuhiro Terada et al. ANNALS OF NUCLEAR MEDICINE
- Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
- (2012) Josef Finsterer et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia
- (2012) Angela Magariello et al. MUSCLE & NERVE
- Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation
- (2011) Antonio Orlacchio et al. JOURNAL OF NEUROLOGY
- Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes
- (2011) X. Bian et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A
- (2011) L. J. Byrnes et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
- (2009) A. K. Erichsen et al. BRAIN
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