Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

Marialuisa Quadri; Mingyan Fang; Marina Picillo; Simone Olgiati; Guido J. Breedveld; Josja Graafland; Bin Wu; Fengping Xu; Roberto Erro; Marianna Amboni; Sabina Pappata; Mario Quarantelli; Grazia Annesi; Aldo Quattrone; Hsin F. Chien; Egberto R. Barbosa; Ben A. Oostra; Paolo Barone; Jun Wang; Vincenzo Bonifati

doi:10.1002/humu.22373

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

Marialuisa Quadri, Mingyan Fang, Marina Picillo, Simone Olgiati, Guido J. Breedveld, Josja Graafland, Bin Wu, Fengping Xu, Roberto Erro, Marianna Amboni, Sabina Pappata, Mario Quarantelli, Grazia Annesi, Aldo Quattrone, Hsin F. Chien, Egberto R. Barbosa, Ben A. Oostra, Paolo Barone, Jun Wang, Vincenzo Bonifati

Genome Research and Molecular Bio Medicine

Research output: Contribution to journal › Journal article › Research › peer-review

Original language	English
Journal	Human Mutation
Volume	34
Issue number	9
Pages (from-to)	1208-1215
Number of pages	8
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.22373
Publication status	Published - 2013

Keywords

Parkinsonism
dystonia
dementia
SYNJ1
PINK1
gene
mutation

Access to Document

10.1002/humu.22373

Cite this

Quadri, M., Fang, M., Picillo, M., Olgiati, S., Breedveld, G. J., Graafland, J., Wu, B., Xu, F., Erro, R., Amboni, M., Pappata, S., Quarantelli, M., Annesi, G., Quattrone, A., Chien, H. F., Barbosa, E. R., Oostra, B. A., Barone, P., Wang, J., & Bonifati, V. (2013). Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Human Mutation, 34(9), 1208-1215. https://doi.org/10.1002/humu.22373

Quadri, M, Fang, M, Picillo, M, Olgiati, S, Breedveld, GJ, Graafland, J, Wu, B, Xu, F, Erro, R, Amboni, M, Pappata, S, Quarantelli, M, Annesi, G, Quattrone, A, Chien, HF, Barbosa, ER, Oostra, BA, Barone, P, Wang, J & Bonifati, V 2013, 'Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism', Human Mutation, vol. 34, no. 9, pp. 1208-1215. https://doi.org/10.1002/humu.22373

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title = "Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism",

keywords = "Parkinsonism, dystonia, dementia, SYNJ1, PINK1, gene, mutation",

author = "Marialuisa Quadri and Mingyan Fang and Marina Picillo and Simone Olgiati and Breedveld, {Guido J.} and Josja Graafland and Bin Wu and Fengping Xu and Roberto Erro and Marianna Amboni and Sabina Pappata and Mario Quarantelli and Grazia Annesi and Aldo Quattrone and Chien, {Hsin F.} and Barbosa, {Egberto R.} and Oostra, {Ben A.} and Paolo Barone and Jun Wang and Vincenzo Bonifati",

year = "2013",

doi = "10.1002/humu.22373",

language = "English",

volume = "34",

pages = "1208--1215",

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T1 - Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

AU - Quadri, Marialuisa

AU - Fang, Mingyan

AU - Picillo, Marina

AU - Olgiati, Simone

AU - Breedveld, Guido J.

AU - Graafland, Josja

AU - Wu, Bin

AU - Xu, Fengping

AU - Erro, Roberto

AU - Amboni, Marianna

AU - Pappata, Sabina

AU - Quarantelli, Mario

AU - Annesi, Grazia

AU - Quattrone, Aldo

AU - Chien, Hsin F.

AU - Barbosa, Egberto R.

AU - Oostra, Ben A.

AU - Barone, Paolo

AU - Wang, Jun

AU - Bonifati, Vincenzo

PY - 2013

Y1 - 2013

KW - Parkinsonism

KW - dystonia

KW - dementia

KW - SYNJ1

KW - PINK1

KW - gene

KW - mutation

U2 - 10.1002/humu.22373

DO - 10.1002/humu.22373

M3 - Journal article

C2 - 23804577

SN - 1059-7794

VL - 34

SP - 1208

EP - 1215

JO - Human Mutation

JF - Human Mutation

IS - 9

ER -