A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson’s Disease.

Liena Elbaghir Omer Elsayed, Valérie Drouet, Tatiana Usenko, Inaam N. Mohammed, Ahlam AbdAlrahman Ahmed Hamed, Maha Abdelmoneim Elseed, Mustafa A.M. Salih, Mahmoud Eltayeb Koko, Ashraf Yahia Osman Mohamed, Rayan Abubaker Siddig, Mustafa Idris Elbashir, Muntaser Eltayeb Ibrahim, Alexandra Durr, Giovanni Stevanin, Suzanne Lesage, Ammar Eltahir Ahmed, Alexis Brice
Ann Neurol.. 2016-01-19; 79(2): 335-337
DOI: 10.1002/ana.24591


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1. Ann Neurol. 2016 Feb;79(2):335-7. doi: 10.1002/ana.24591. Epub 2016 Jan 19.

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive
Juvenile-Onset Parkinson’s Disease.

Elsayed LE(1)(2)(3), Drouet V(1), Usenko T(1), Mohammed IN(3), Hamed AA(3),
Elseed MA(3), Salih MA(4), Koko ME(5), Mohamed AY(6), Siddig RA(7), Elbashir
MI(3), Ibrahim ME(5), Durr A(1)(8), Stevanin G(1)(2)(8), Lesage S(1), Ahmed
AE(3), Brice A(1)(8).

Author information:
(1)Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06,
UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France.
(2)Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris,
France.
(3)Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
(4)Division of Pediatric Neurology, Department of Pediatrics, College of
Medicine, King Saud University, Riyadh, Saudi Arabia.
(5)Department of Molecular Biology, Institute of Endemic Diseases, University of
Khartoum, Khartoum, Sudan.
(6)Department of Biochemistry, Faculty of Medicine, National University,
Khartoum, Sudan.
(7)Faculty of Science, University of Elneelen, Khartoum, Sudan.
(8)APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, France.

Comment in
Ann Neurol. 2016 Feb;79(2):337-8.

Comment on
Ann Neurol. 2016 Feb;79(2):244-56.

DOI: 10.1002/ana.24591
PMID: 26703368 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus