SCOPUS 정보 검색 플랫폼

Neurology

Volumn 78, Issue 18, 2012, Pages 1449-1450

Clinical/scientific notes

(8) Lesage, S a Condroyer, C a Klebe, S a Honore A a Tison, F c Brefel Courbon, C d Durr A a,b Brice, A a,b

a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE (France)

b PITIÉ SALPÊTRIÈRE HOSPITAL (France)

c HAUT LÉVÊQUE HOSPITAL (France)

d TOULOUSE UNIVERSITY HOSPITAL (France)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG; VACUOLAR PROTEIN SORTING 35; VESICULAR TRANSPORT PROTEIN; VPS35 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL INHERITANCE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; FAMILY; FEMALE; FRANCE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MINI MENTAL STATE EXAMINATION; PARKINSON DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; GENETICS; HAPLOTYPE; HETEROZYGOTE DETECTION; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS;

ADULT; AGED; ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENETIC TESTING; GENETIC VARIATION; GENETICS, POPULATION; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; VESICULAR TRANSPORT PROTEINS;

EID: 84860767366 PISSN: 00283878 EISSN: 1526632X Source Type: Journal
DOI: 10.1212/WNL.0b013e318253d5f2 Document Type: Article

Times cited : (57)

References (7)

1
- 77956642100
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010;42:790-793.
- (2010) Nat Genet , vol.42 , pp. 790-793
- Ng, S.B.¹ Bigham, A.W.² Buckingham, K.J.³

2
- 78649941297
- Exome sequencing reveals VCP mutations as a cause of familial ALS
- Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010;68:857-864.
- (2010) Neuron , vol.68 , pp. 857-864
- Johnson, J.O.¹ Mandrioli, J.² Benatar, M.³

3
- 78649890408
- TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
- Wang JL, Yang X, Xia K, et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 2010;133:3510-3518.
- (2010) Brain , vol.133 , pp. 3510-3518
- Wang, J.L.¹ Yang, X.² Xia, K.³

4
- 79953286746
- Exome sequencing allows for rapid gene identification in a Charcot- Marie-Tooth family
- Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot- Marie-Tooth family. Ann Neurol 2011;69:464-470.
- (2011) Ann Neurol , vol.69 , pp. 464-470
- Montenegro, G.¹ Powell, E.² Huang, J.³

5
- 80051488602
- VPS35 mutations in parkinson disease
- Vilariño-Güell C, Wider C, Ross OA, et al. VPS35 Mutations in Parkinson Disease. Am J Hum Genet 2011;89: 162-167.
- (2011) Am J Hum Genet , vol.89 , pp. 162-167
- Vilarino-Güell, C.¹ Wider, C.² Ross, O.A.³

6
- 80051534540
- A mutation in VPS35 encoding a subunit of the retromer complex causes late-onset Parkinson disease
- Zimprich A, Benet-Pagès A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011;89:168-175.
- (2011) Am J Hum Genet , vol.89 , pp. 168-175
- Zimprich, A.¹ Benet-Pagès, A.² Struhal, W.³

7
- 0026514953
- Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
- Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
- (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
- Hughes, A.J.¹ Daniel, S.E.² Kilford, L.³ Lees, A.J.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.