Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2) [0.03%]
Larissa Arning,Ludger Schöls,Huriye Cin et al.
Larissa Arning et al.
Autosomal recessive cerebellar ataxia with ocular apraxia type 2 (AOA2) is a neurodegenerative disorder characterised by early onset cerebellar ataxia, sensory-motor neuropathy and frequently increased levels of alpha-fetoprotein. We descri...
Case Reports
Neurogenetics. 2008 Oct;9(4):295-9. DOI:10.1007/s10048-008-0139-z 2008
Behavioral effects of a deletion in Kcnn2, the gene encoding the SK2 subunit of small-conductance Ca2+-activated K+ channels [0.03%]
Kcnn2基因缺失的小鼠行为学研究,Kcnn2基因是小导电容钙激活钾通道SK2亚单位基因
Marek Szatanik,Nicolas Vibert,Isabelle Vassias et al.
Marek Szatanik et al.
Small-conductance Ca(2+)-activated potassium (SK) channels are heteromeric complexes of SK alpha-subunits and calmodulin that modulate membrane excitability, are responsible for part of the after-hyperpolarization (AHP) following action pot...
Global distribution of fatal familial insomnia: founder or recurrent mutations [0.03%]
致命家族失眠症的全球分布：创始或复发突变
H-S Lee,L G Goldfarb
H-S Lee
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis [0.03%]
白细胞中新型CAPN3转录本的表征：用于诊断肢带型肌营养不良症2A的新方法
L Blázquez,M Azpitarte,A Sáenz et al.
L Blázquez et al.
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder caused by mutations in the CAPN3 gene. Its definitive diagnosis is laborious, since the clinical phenotype is often similar to other types of muscular dystro...
Kawther Abu-Elneel,Tsunglin Liu,Francesca S Gazzaniga et al.
Kawther Abu-Elneel et al.
microRNAs (miRNAs) are approximately 21 nt transcripts capable of regulating the expression of many mRNAs and are abundant in the brain. miRNAs have a role in several complex diseases including cancer as well as some neurological diseases s...
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes [0.03%]
一个携带有血友病A基因和X连锁肾上腺脑白质营养不良基因复合突变的家庭报告
Brent L Fogel,Pari Young,Arthur R Thompson et al.
Brent L Fogel et al.
X-linked adrenoleukodystrophy and hemophilia A are two distinct, potentially devastating, genetic diseases whose corresponding genes are located in close proximity on the X chromosome. Here we report a family with members affected with both...
Case Reports
Neurogenetics. 2008 Jul;9(3):215-8. DOI:10.1007/s10048-008-0132-6 2008
A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes [0.03%]
一个同时携带甲型血友病和X连锁肾上腺脑白质营养不良基因复合突变的家庭
Brent L Fogel,Pari Young,Arthur R Thompson et al.
Brent L Fogel et al.
X-linked adrenoleukodystrophy and hemophilia A are two distinct, potentially devastating, genetic diseases whose corresponding genes are located in close proximity on the X chromosome. Here we report a family with members affected with both...
Case Reports
Neurogenetics. 2008 Jul;9(3):215-8. DOI:10.1007/s10048-008-0132-6 2008
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia [0.03%]
荷兰人群中的ARSACS：早发性小脑共济失调的常见原因
Sascha Vermeer,Rowdy P P Meijer,Benjamin J Pijl et al.
Sascha Vermeer et al.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. This disorder, considered to be rare, w...
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25 [0.03%]
重新评估一个大家系定义了位于X染色体q25的遗传性脊髓性肌萎缩症新基因座（SPG34）
Lúcia Inês Macedo-Souza,Fernando Kok,Silvana Santos et al.
Lúcia Inês Macedo-Souza et al.
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region [0.03%]
一个创始人单体型的证据将X染色体上的一种遗传病的致病基因座定位于2.5Mb区域之内(CMTX3型遗传性神经病变)
Megan Brewer,Febriani Changi,Anthony Antonellis et al.
Megan Brewer et al.
X-linked Charcot-Marie-Tooth (CMTX) disease is a common inherited degenerative disorder of the peripheral nerve. Previously, our laboratory identified a large New Zealand/United Kingdom (NZ/UK) family mapping to the CMTX3 locus (Xq26.3-27.1...