National Science Library, Chinese Academy of Sciences
  登录 机构网站 ENGLISH
您当前的位置是:电子期刊浏览 --> 卷期浏览
Neurogenetics(978)
ISSN: 1364-6745
21    
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus 期刊论文

Neurogenetics     ISSN:1364-6745  Page:1-6  

Wang Miaomiao;   Zhang Xinqing;  

文摘信息 问图书馆员

22    
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:7  Issue:3  Page:133-138  

Di Fonzo A;   Wu-Chou YH;   Lu CS;   van Doeselaar M;   Simons EJ;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:170

文摘信息 获取全文 问图书馆员

23    
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:99-102  

Ramos EM;   Roca A;   Chumchim N;   Dokuru DR;   Van Berlo V;   ...

被引频次:0

文摘信息 问图书馆员

24    
Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:20  Issue:2  Page:73-82  

Sofía Sánchez-Iglesias;   Melissa Crocker;   Mar O’Callaghan;   Alejandra Darling;   Angels García-Cazorla;   ...

文摘信息 问图书馆员

25    
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:103-108  

Accogli A;   Russell L;   Sebire G;   Riviere JB;   St-Onge J;   ...

被引频次:0

文摘信息 问图书馆员

26    
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:91-98  

Cauley ES;   Hamed A;   Mohamed IN;   Elseed M;   Martinez S;   ...

被引频次:0

文摘信息 问图书馆员

27    
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:109-115  

Alsahli S;   Alfares A;   Guzman-Vega FJ;   Arold ST;   Ba-Armah D;   ...

被引频次:0

文摘信息 问图书馆员

28    
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:73-82  

Sanchez-Iglesias S;   Crocker M;   O'Callaghan M;   Darling A;   Garcia-Cazorla A;   ...

被引频次:0

文摘信息 问图书馆员

29    
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual et... 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:65-71  

Naruse H;   Matsukawa T;   Ishiura H;   Mitsui J;   Takahashi Y;   ...

被引频次:0

文摘信息 问图书馆员

30    
Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:20  Issue:2  Page:83-89  

Lansdell TA;   Fisher C;   Simmonds K;   Reeves MJ;   Woo D;   ...

被引频次:0

文摘信息 问图书馆员

31    
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity 期刊论文

Neurogenetics     ISSN:1364-6745  Page:1-15  

Beck David B;   Subramanian T;   Vijayalingam S;   Ezekiel Uthayashankar R;   Donkervoort Sandra;   ...

文摘信息 问图书馆员

32    
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 期刊论文

neurogenetics     ISSN:1364-6745  Volume:19  Issue:4  Page:215-225  

Leal Alejandro;   Bogantes-Ledezma Sixto;   Ekici Arif B;   Uebe Steffen;   Thiel Christian T;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:2

文摘信息 获取全文 问图书馆员

33    
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family 期刊论文

Neurogenetics     ISSN:1364-6745  Page:1-11  

Shelisa Tey;   Nortina Shahrizaila;   Alexander P Drew;   Sarimah Samulong;   Khean-Jin Goh;   ...

文摘信息 问图书馆员

34    
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral... 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:18  Issue:1  Page:7-22  

Kaut O;   Schmitt I;   Tost J;   Busato F;   Liu Y;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:13

文摘信息 获取全文 问图书馆员

35    
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:14  Issue:3  Page:205-213  

Geis Tobias;   Marquard Klaus;   Rödl Tanja;   Reihle Christof;   Schirmer Sophie;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:37

文摘信息 获取全文 问图书馆员

36    
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder 期刊论文

neurogenetics     ISSN:1364-6745  Volume:11  Issue:1  Page:81-89  

Poot Martin;   Beyer Vera;   Schwaab Ira;   Damatova Natalja;   van’t Slot Ruben;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:83

文摘信息 获取全文 问图书馆员

37    
Reply to the “Letter to the Editor” from Dr. J Finsterer and colleagues 期刊论文

neurogenetics     ISSN:1364-6745  Volume:20  Issue:1  Page:55-56  

Hisatomi Yuichiro;   Murayama Kei;   Ohtake Akira;   Okazaki Yasushi;  

来源数据库:Neurosciences Abstracts        

获取全文 问图书馆员

38    
Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:20  Issue:1  Page:1-8  

Kapferer-Seebacher Ines;   Waisfisz Quinten;   Boesch Sylvia;   Bronk Marieke;   van Tintelen Peter;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:0

文摘信息 获取全文 问图书馆员

39    
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1 期刊论文

neurogenetics     ISSN:1364-6745  Volume:20  Issue:1  Page:39-43  

Hata Yukiko;   Yoshida Koji;   Nishida Naoki;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:0

文摘信息 获取全文 问图书馆员

40    
Clinical and molecular studies in two new cases of ARSACS 期刊论文

neurogenetics     ISSN:1364-6745  Volume:20  Issue:1  Page:45-49  

Ricca Ivana;   Morani Federica;   Bacci Giacomo Maria;   Nesti Claudia;   Caputo Roberto;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:0

文摘信息 获取全文 问图书馆员

作者信息:×