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。Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
Maryam Erfanian Omidvar et al.
JOURNAL OF NEUROLOGY (2021)
The emerging genetic diversity of hereditary spastic paraplegia in Korean patients
Jin Ok Yang et al.
GENOMICS (2021)
SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
Carlotta Spagnoli et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2021)
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia
Dora Fabbro et al.
JOURNAL OF HUMAN GENETICS (2021)
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations
Matthew Tanti et al.
NEUROGENETICS (2020)
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Gij S. H. P. Tazelaar et al.
NEUROBIOLOGY OF AGING (2019)
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
Aryun Kim et al.
CEREBELLUM (2019)
Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort
Lucia Corrado et al.
NEUROLOGICAL SCIENCES (2019)
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
Miao Zhao et al.
MOLECULAR DIAGNOSIS & THERAPY (2019)
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients
Cong Lu et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2018)
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
En-Lin Dong et al.
MOLECULAR NEURODEGENERATION (2018)
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore et al.
FRONTIERS IN NEUROLOGY (2018)
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands
Peter Balicza et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2016)
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)
Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene
D. Arkadir et al.
EUROPEAN JOURNAL OF NEUROLOGY (2014)
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
Hiroyuki Ishiura et al.
JOURNAL OF HUMAN GENETICS (2014)
Recurrent de novo c.316G>A mutation in NIPA1 hotspot
Peter Hedera
JOURNAL OF THE NEUROLOGICAL SCIENCES (2013)
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation
Maria Martinez-Lage et al.
ACTA NEUROPATHOLOGICA (2012)
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
Juan Du et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2011)
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy
K. Svenstrup et al.
EUROPEAN JOURNAL OF NEUROLOGY (2011)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew C. Elden et al.
NATURE (2010)
Hereditary Spastic Paraplegia-Associated Mutations in the NIPA1 Gene and Its Caenorhabditis elegans Homolog Trigger Neural Degeneration In Vitro and In Vivo through a Gain-of-Function Mechanism
Jiali Zhao et al.
JOURNAL OF NEUROSCIENCE (2008)
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia
Shi Guo Liu et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots
Christian Beetz et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter
Angela Goytain et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
Stephan Klebe et al.
NEUROGENETICS (2007)
Childhood-onset spastic paraplegia with NIPA1 gene mutation
Ricardo Bien-Willner et al.
JOURNAL OF CHILD NEUROLOGY (2006)
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
Satoshi Kaneko et al.
MOVEMENT DISORDERS (2006)
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)
RP Munhoz et al.
MOVEMENT DISORDERS (2006)
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
JA Reed et al.
NEUROGENETICS (2005)
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
SQ Chen et al.
HUMAN MUTATION (2005)
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
S Rainier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)