Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

Hossein Darvish; Paloma Bravo; Abbas Tafakhori; Luis J. Azcona; Sakineh Ranji-Burachaloo; Amir Hossein Johari; Coro Paisán-Ruiz

doi:10.1002/mds.27516

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

Hossein Darvish, Paloma Bravo, Abbas Tafakhori, Luis J. Azcona, Sakineh Ranji-Burachaloo, Amir Hossein Johari, Coro Paisán-Ruiz

Research output: Contribution to journal › Letter › peer-review

37 Scopus citations

Original language	English
Pages (from-to)	1968-1970
Number of pages	3
Journal	Movement Disorders
Volume	33
Issue number	12
DOIs	https://doi.org/10.1002/mds.27516
State	Published - Dec 2018

Keywords

VPS13C
early-onset parkinsonism
genomic deletion
polyneuropathy

Access to Document

10.1002/mds.27516

Cite this

@article{59f86b5d151a435db84f57c049e5ea6b,

title = "Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism",

keywords = "VPS13C, early-onset parkinsonism, genomic deletion, polyneuropathy",

author = "Hossein Darvish and Paloma Bravo and Abbas Tafakhori and Azcona, {Luis J.} and Sakineh Ranji-Burachaloo and Johari, {Amir Hossein} and Coro Pais{\'a}n-Ruiz",

note = "Funding Information: Funding agencies: This work was in part supported by the Shahid Beheshti University of Medical Sciences, the American Parkinson Disease Association (APDA; CPR), and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (R01NS079388; CPR).",

year = "2018",

month = dec,

doi = "10.1002/mds.27516",

language = "English",

volume = "33",

pages = "1968--1970",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley & Sons Inc.",

number = "12",

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TY - JOUR

T1 - Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

AU - Darvish, Hossein

AU - Bravo, Paloma

AU - Tafakhori, Abbas

AU - Azcona, Luis J.

AU - Ranji-Burachaloo, Sakineh

AU - Johari, Amir Hossein

AU - Paisán-Ruiz, Coro

N1 - Funding Information: Funding agencies: This work was in part supported by the Shahid Beheshti University of Medical Sciences, the American Parkinson Disease Association (APDA; CPR), and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (R01NS079388; CPR).

PY - 2018/12

Y1 - 2018/12

KW - VPS13C

KW - early-onset parkinsonism

KW - genomic deletion

KW - polyneuropathy

UR - http://www.scopus.com/inward/record.url?scp=85056702111&partnerID=8YFLogxK

U2 - 10.1002/mds.27516

DO - 10.1002/mds.27516

M3 - Letter

C2 - 30452786

AN - SCOPUS:85056702111

SN - 0885-3185

VL - 33

SP - 1968

EP - 1970

JO - Movement Disorders

JF - Movement Disorders

IS - 12

ER -