Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

Coro Paisán-Ruiz; Javier Ruiz-Martinez; Marta Ruibal; Kin Y. Mok; Begona Indakoetxea; Ana Gorostidi; José F. Martí Massó

doi:10.1002/mds.22849

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

Coro Paisán-Ruiz
, Javier Ruiz-Martinez
, Marta Ruibal
, Kin Y. Mok
, Begona Indakoetxea
, Ana Gorostidi
, José F. Martí Massó

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

30 Scopus citations

Original language	English
Pages (from-to)	2428-2429
Number of pages	2
Journal	Movement Disorders
Volume	24
Issue number	16
DOIs	https://doi.org/10.1002/mds.22849
State	Published - 15 Dec 2009
Externally published	Yes

Access to Document

10.1002/mds.22849

Cite this

@article{0be9ad5cc0b4472b90a7345072c1c9a5,

title = "Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia",

author = "Coro Pais{\'a}n-Ruiz and Javier Ruiz-Martinez and Marta Ruibal and Mok, \{Kin Y.\} and Begona Indakoetxea and Ana Gorostidi and \{Mart{\'i} Mass{\'o}\}, \{Jos{\'e} F.\}",

year = "2009",

month = dec,

day = "15",

doi = "10.1002/mds.22849",

language = "English",

volume = "24",

pages = "2428--2429",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "16",

}

TY - JOUR

T1 - Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

AU - Paisán-Ruiz, Coro

AU - Ruiz-Martinez, Javier

AU - Ruibal, Marta

AU - Mok, Kin Y.

AU - Indakoetxea, Begona

AU - Gorostidi, Ana

AU - Martí Massó, José F.

PY - 2009/12/15

Y1 - 2009/12/15

UR - https://www.scopus.com/pages/publications/73949091414

U2 - 10.1002/mds.22849

DO - 10.1002/mds.22849

M3 - Letter

C2 - 19908320

AN - SCOPUS:73949091414

SN - 0885-3185

VL - 24

SP - 2428

EP - 2429

JO - Movement Disorders

JF - Movement Disorders

IS - 16

ER -