Recurrent mutations inDNAJC5cause autosomal dominant Kufs disease-Reference-Cited by-同舟云学术

Recurrent mutations inDNAJC5cause autosomal dominant Kufs disease

Published:2012-11-07 Issue:6 Volume:83 Page:571-575
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Cadieux-Dion M¹,Andermann E²,Lachance-Touchette P¹,Ansorge O³,Meloche C¹,Barnabé A²,Kuzniecky RI⁴,Andermann F²,Faught E⁵,Leonberg S⁶,Damiano JA⁷,Berkovic SF⁷,Rouleau GA¹,Cossette P¹

Affiliation:

1. CHUM Research Center; University of Montreal; Montreal; Quebec; Canada

2. Montreal Neurological Institute; McGill University; Montreal; Quebec; Canada

3. Department of Neuropathology; John Radcliffe Hospital; Oxford; UK

4. Department of Neurology; Langone Medical Center, New York University; New York; NY; USA

5. Emory University School of Medicine; Atlanta; GA; USA

6. Rutgers Medical School and Cooper Hospital/University Medical Center; Camden; NJ; USA

7. Epilepsy Research Center; University of Melbourne, Austin Health; Heidelberg; VIC; 3084; Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

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3. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage;Smith;Am J Hum Genet,2012

4. A dominant form of neuronal ceroid-lipofuscinosis;Boehme;Brain,1971

5. Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama;Burneo;Epilepsia,2003

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