Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene-Reference-Cited by-同舟云学术

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

Published:2018-11-06 Issue:1 Volume:34 Page:142-144
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Leńska‐Mieciek Marta¹,Charzewska Agnieszka²,Królicki Leszek³,Hoffman‐Zacharska Dorota²,Chen Zhefan Stephen⁴,Lau Kwok‐Fai⁴,Chan Ho Yin Edwin⁴⁵,Gambin Tomasz²,Fiszer Urszula¹

Affiliation:

1. Department of Neurology and Epileptology Centre of Postgraduate Medical Education Warsaw Poland

2. Department of Medical Genetics Institute of Mother and Child Warsaw Poland

3. Department of Nuclear Medicine Medical University of Warsaw Warsaw Poland

4. School of Life Sciences, Faculty of Science The Chinese University of Hong Kong Shatin, N.T. Hong Kong SAR China

5. Gerald Choa Neuroscience Centre The Chinese University of Hong Kong Shatin, N.T. Hong Kong SAR China

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.27536

Reference4 articles.

1. A novel missense mutation inCCDC88Cactivates the JNK pathway and causes a dominant form of spinocerebellar ataxia

2. Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

3. Pharmacotherapy of Essential Tremor

4. Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society

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