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Neurogenetics(57)
ISSN: 1364-6745
1    
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:12

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2    
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, SciTech Premium Collection]         被引频次:13

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3    
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:2  Page:111-117  

Douglas Andrew G. L;   Andreoletti Gaia;   Talbot Kevin;   Hammans Simon R;   Singh Jaspal;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:10

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4    
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:4  Page:195-205  

Zech Michael;   Jech Robert;   Wagner Matias;   Mantel Tobias;   Boesch Sylvia;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:6

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5    
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:18  Issue:3  Page:121-133  

Murthy MN;   Blauwendraat C;   Guelfi S;   Hardy J;   Lewis PA;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:8

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6    
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson’s disease on chromosome 7p15.3 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:3  Page:121-133  

Murthy Megha N;   Blauwendraat Cornelis;   Guelfi Sebastian;   Hardy John;   Lewis Patrick A;   ...

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7    
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:4  Page:245-250  

Sancho Paula;   Sánchez-Monteagudo Ana;   Collado Antonio;   Marco-Marín Clara;   Domínguez-González Cristina;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:5

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8    
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 Oliver;   Schmitt Ina;   Tost Jörg;   Busato Florence;   Liu Yi;   ...

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9    
Circular RNAs—one of the enigmas of the brain 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:1  Page:1-6  

Filippenkov Ivan B;   Kalinichenko Eugene O;   Limborska Svetlana A;   Dergunova Lyudmila V;  

来源数据库:[Web of Science, Science Citation Index Expanded, SciTech Premium Collection]         被引频次:10

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10    
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:4  Page:207-218  

Pešović Jovan;   Perić S;   Brkušanin M;   Brajušković G;   Rakočević-Stojanović V;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:4

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11    
Recurrent KIF2A mutations are responsible for classic lissencephaly 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:2  Page:73-79  

Cavallin Mara;   Bijlsma Emilia K;   El Morjani Adrienne;   Moutton Sébastien;   Peeters Els A. J;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, SciTech Premium Collection]         被引频次:7

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12    
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:4  Page:185-194  

Miyake Noriko;   Wolf Nicole I;   Cayami Ferdy K;   Crawford Joanna;   Bley Annette;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:3

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13    
Mosaicism in ATP1A3-related disorders: not just a theoretical risk 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:1  Page:23-28  

Hully Marie;   Ropars Juliette;   Hubert Laurence;   Boddaert Nathalie;   Rio Marlene;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, SciTech Premium Collection]         被引频次:6

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14    
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:3  Page:175-178  

Carecchio Miryam;   Picillo Marina;   Valletta Lorella;   Elia Antonio E;   Haack Tobias B;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:5

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15    
DRD2 C957T polymorphism is associated with improved 6-month verbal learning following traumatic brain injury 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:1  Page:29-38  

Yue John K;   Winkler Ethan A;   Rick Jonathan W;   Burke John F;   McAllister Thomas W;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, SciTech Premium Collection]         被引频次:7

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16    
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:1  Page:57-61  

Fattal-Valevski Aviva;   Eliyahu Hila;   Fraenkel NItai D;   Elmaliach Ganit;   Hausman-Kedem Moran;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, SciTech Premium Collection]         被引频次:7

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17    
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:4  Page:219-225  

Maggi Lorenzo;   Ravaglia Sabrina;   Farinato Alessandro;   Brugnoni Raffaella;   Altamura Concetta;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:1

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18    
GNE missense mutation in recessive familial amyotrophic lateral sclerosis 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:4  Page:237-243  

Köroğlu Çiğdem;   Yılmaz Rezzak;   Sorgun Mine Hayriye;   Solakoğlu Seyhun;   Şener Özden;  

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:1

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19    
Pain insensitivity: distal S6-segment mutations in Na(V)1.9 emerge as critical hotspot 期刊论文

NEUROGENETICS     ISSN:1364-6745  Volume:18  Issue:3  Page:179-181  

King MK;   Leipold E;   Goehringer JM;   Kurth I;   Challman TD;  

被引频次:3

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20    
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype 期刊论文

neurogenetics     ISSN:1364-6745  Volume:18  Issue:2  Page:97-103  

La Piana Roberta;   Weraarpachai Woranontee;   Ospina Luis H;   Tetreault Martine;   Majewski Jacek;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Neurosciences Abstracts]         被引频次:4

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