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Neurogenetics(977)
ISSN: 1364-6745
1    
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification 期刊论文

neurogenetics   ISSN:1364-6745,1364-6753  Volume:14  Issue:1  Page:11-22  

Hsu Sandy Chan;   Sears Renee L;   Lemos Roberta R;   Quintáns Beatriz;   Huang Alden;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:76

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2    
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:16  Issue:1  Page:1-9  

Ajroud-Driss Senda;   Fecto Faisal;   Ajroud Kaouther;   Lalani Irfan;   Calvo Sarah E;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:41

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3    
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood 期刊论文

neurogenetics     ISSN:1364-6745  Volume:14  Issue:3  Page:225-232  

Ohba Chihiro;   Osaka Hitoshi;   Iai Mizue;   Yamashita Sumimasa;   Suzuki Yume;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:52

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4    
Heterogeneous dysregulation of microRNAs across the autism spectrum 期刊论文

neurogenetics     ISSN:1364-6745  Volume:9  Issue:3  Page:153-161  

Abu-Elneel Kawther;   Liu Tsunglin;   Gazzaniga Francesca S;   Nishimura Yuhei;   Wall Dennis P;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:152

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5    
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:15  Issue:3  Page:183-188  

Olgiati Simone;   Rosa Anna;   Quai Marialuisa;   Criscuolo Chiara;   Breedveld Guido;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:41

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6    
miR-338-3p is over-expressed in blood, CFS, serum and spinal cord from sporadic amyotrophic lateral sclerosis patients 期刊论文

neurogenetics     ISSN:1364-6745  Volume:15  Issue:4  Page:243-253  

De Felice Bruna;   Annunziata Anna;   Fiorentino Giuseppe;   Borra Marco;   Biffali Elio;   ...

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

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7    
Gene expression analyses reveal molecular relationships among 20 regions of the human CNS 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:7  Issue:2  Page:67-80  

Roth Richard B;   Hevezi Peter;   Lee Jerry;   Willhite Dorian;   Lechner Sandra M;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:207

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8    
‘Neuroinflammation’ differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases compared 期刊论文

neurogenetics     ISSN:1364-6745  Volume:15  Issue:3  Page:201-212  

Filiou Michaela D;   Arefin Ahmed Shamsul;   Moscato Pablo;   Graeber Manuel B;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:35

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9    
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis 期刊论文

neurogenetics     ISSN:1364-6745  Volume:13  Issue:2  Page:141-145  

Smith Miriam J;   Wallace Andrew J;   Bowers Naomi L;   Rustad Cecilie F;   Woods C Geoff;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:59

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10    
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families 期刊论文

neurogenetics     ISSN:1364-6745  Volume:15  Issue:2  Page:117-127  

Egger Gerald;   Roetzer Katharina M;   Noor Abdul;   Lionel Anath C;   Mahmood Huda;   ...

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

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11    
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:15  Issue:2  Page:85-92  

Ohba Chihiro;   Okamoto Nobuhiko;   Murakami Yoshiko;   Suzuki Yasuhiro;   Tsurusaki Yoshinori;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:32

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12    
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome 期刊论文

neurogenetics     ISSN:1364-6745  Volume:20  Issue:1  Page:9-25  

Borna Nurun Nahar;   Kishita Yoshihito;   Kohda Masakazu;   Lim Sze Chern;   Shimura Masaru;   ...

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

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13    
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration 期刊论文

neurogenetics     ISSN:1364-6745  Volume:16  Issue:3  Page:215-221  

Damseh Nadirah;   Danson Chris M;   Al-Ashhab Motee;   Abu-Libdeh Bassam;   Gallon Matthew;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:25

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14    
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:11  Issue:4  Page:401-408  

Vilarino-Guell C;   Wider C;   Ross OA;   Jasinska-Myga B;   Kachergus J;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:70

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15    
Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:13  Issue:1  Page:1-7  

van den Munckhof Pepijn;   Christiaans Imke;   Kenter Susan B;   Baas Frank;   Hulsebos Theo J. M;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:55

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16    
Male patients affected by mosaic PCDH19 mutations: five new cases 期刊论文

Neurogenetics     ISSN:1364-6745  Volume:18  Issue:3  Page:147-153  

de Lange I. M;   Rump P;   Neuteboom R. F;   Augustijn P. B;   Hodges K;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:11

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17    
Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid 期刊论文

neurogenetics     ISSN:1364-6745  Volume:17  Issue:2  Page:125-130  

Jensen Nina;   Autzen Jacob Kwasi;   Pedersen Lene;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:19

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18    
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:169

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19    
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  

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

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20    
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia 期刊论文

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

Andrea Accogli;   Laura Russell;   Guillaume Sébire;   Jean-Baptiste Rivière;   Judith St-Onge;   ...

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