Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
出版年份 2012 全文链接
标题
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
作者
关键词
-
出版物
JOURNAL OF NEUROLOGY
Volume 259, Issue 8, Pages 1673-1685
出版商
Springer Nature
发表日期
2012-02-01
DOI
10.1007/s00415-011-6397-y
参考文献
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。- KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
- (2011) Jean-Baptiste Rivière et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
- (2010) Annelies Rotthier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
- (2010) Christian Guelly et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
- (2010) Anke Penno et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy
- (2010) O. P. Carvalho et al. JOURNAL OF MEDICAL GENETICS
- Mutation in FAM134B causing severe hereditary sensory neuropathy: Figure 1
- (2010) Sinéad M Murphy et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Non-genetic heterogeneity from stochastic partitioning at cell division
- (2010) Dann Huh et al. NATURE GENETICS
- Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation
- (2009) A. Rotthier et al. BRAIN
- Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain
- (2009) GREGORY J FITZGIBBON et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Diagnosis and new treatments in genetic neuropathies
- (2009) M M Reilly et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Overexpression of the Wild-Type SPT1 Subunit Lowers Desoxysphingolipid Levels and Rescues the Phenotype of HSAN1
- (2009) F. S. Eichler et al. JOURNAL OF NEUROSCIENCE
- Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
- (2009) Ingo Kurth et al. NATURE GENETICS
- A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated
- (2009) Thorsten Hornemann et al. NEUROGENETICS
- A novel NGFB point mutation: a phenotype study of heterozygous patients
- (2008) J Minde et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
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