Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

Tessa van Dijk; Sabine Rudnik-Schöneborn; Jan Senderek; Ghazaleh Hajmousa; Hailiang Mei; Marina Dusl; Eleonora Aronica; Peter Barth; Frank Baas

doi:https://doi.org/10.1093/brain/awx147

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

Tessa van Dijk, Sabine Rudnik-Schöneborn, Jan Senderek, Ghazaleh Hajmousa, Hailiang Mei, Marina Dusl, Eleonora Aronica, Peter Barth, Frank Baas

Research output: Contribution to journal › Comment/Letter to the editor › Academic

18 Citations (Scopus)

Original language	English
Pages (from-to)	E45-+
Journal	Brain
Volume	140
Issue number	8
Early online date	2017
DOIs	https://doi.org/10.1093/brain/awx147
Publication status	Published - 2017

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https://doi.org/10.1093/brain/awx147

Cite this

@article{49768f5d86324edfbbbb8806d800f48f,

title = "Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family",

author = "{van Dijk}, Tessa and Sabine Rudnik-Sch{\"o}neborn and Jan Senderek and Ghazaleh Hajmousa and Hailiang Mei and Marina Dusl and Eleonora Aronica and Peter Barth and Frank Baas",

year = "2017",

doi = "https://doi.org/10.1093/brain/awx147",

language = "English",

volume = "140",

pages = "E45--+",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

number = "8",

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TY - JOUR

T1 - Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family

AU - van Dijk, Tessa

AU - Rudnik-Schöneborn, Sabine

AU - Senderek, Jan

AU - Hajmousa, Ghazaleh

AU - Mei, Hailiang

AU - Dusl, Marina

AU - Aronica, Eleonora

AU - Barth, Peter

AU - Baas, Frank

PY - 2017

Y1 - 2017

U2 - https://doi.org/10.1093/brain/awx147

DO - https://doi.org/10.1093/brain/awx147

M3 - Comment/Letter to the editor

C2 - 28637197

SN - 0006-8950

VL - 140

SP - E45-+

JO - Brain

JF - Brain

IS - 8

ER -