A N ovel N onsense M utation in DNAJC 6 E xpands the P henotype of A utosomal‐ R ecessive J uvenile‐ O nset P arkinson's D isease
2015; Wiley; Volume: 79; Issue: 2 Linguagem: Inglês
10.1002/ana.24591
ISSN1531-8249
AutoresLiena E. O. Elsayed, Valérie Drouet, Tatiana Usenko, Inaam N. Mohammed, Ahlam A. Hamed, Maha Abdelmoneim Elseed, Mustafa A. Salih, Mahmoud Koko, Ashraf Yahia, Rayan A. Siddig, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexandra Dürr, Giovanni Stévanin, Suzanne Lesage, Ammar Ahmed, Alexis Brice,
Tópico(s)Genomics and Chromatin Dynamics
ResumoAnnals of NeurologyVolume 79, Issue 2 p. 335-337 Letters/Replies A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease Liena Elbaghir Omer Elsayed MBBS, MSc, Liena Elbaghir Omer Elsayed MBBS, MSc Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorValérie Drouet PhD, Valérie Drouet PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, FranceSearch for more papers by this authorTatiana Usenko PhD, Tatiana Usenko PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, FranceSearch for more papers by this authorInaam N. Mohammed MD, Inaam N. Mohammed MD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAhlam AbdAlrahman Ahmed Hamed MD, Ahlam AbdAlrahman Ahmed Hamed MD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorMaha Abdelmoneim Elseed MD, Maha Abdelmoneim Elseed MD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorMustafa A.M. Salih MD, Dr Med Sci, Mustafa A.M. Salih MD, Dr Med Sci Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi ArabiaSearch for more papers by this authorMahmoud Eltayeb Koko MBBS, MSc, Mahmoud Eltayeb Koko MBBS, MSc Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAshraf Yahia Osman Mohamed MBBS, MSc, Ashraf Yahia Osman Mohamed MBBS, MSc Department of Biochemistry, Faculty of Medicine, National University, Khartoum, SudanSearch for more papers by this authorRayan Abubaker Siddig BSc, Rayan Abubaker Siddig BSc Faculty of Science, University of Elneelen, Khartoum, SudanSearch for more papers by this authorMustafa Idris Elbashir PhD, Mustafa Idris Elbashir PhD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorMuntaser Eltayeb Ibrahim PhD, Muntaser Eltayeb Ibrahim PhD Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAlexandra Durr MD, PhD, Alexandra Durr MD, PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, FranceSearch for more papers by this authorGiovanni Stevanin PhD, Giovanni Stevanin PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, FranceSearch for more papers by this authorSuzanne Lesage PhD, Suzanne Lesage PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, FranceSearch for more papers by this authorAmmar Eltahir Ahmed MD, PhD, Ammar Eltahir Ahmed MD, PhD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAlexis Brice MD, Alexis Brice MD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, FranceSearch for more papers by this author Liena Elbaghir Omer Elsayed MBBS, MSc, Liena Elbaghir Omer Elsayed MBBS, MSc Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorValérie Drouet PhD, Valérie Drouet PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, FranceSearch for more papers by this authorTatiana Usenko PhD, Tatiana Usenko PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, FranceSearch for more papers by this authorInaam N. Mohammed MD, Inaam N. Mohammed MD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAhlam AbdAlrahman Ahmed Hamed MD, Ahlam AbdAlrahman Ahmed Hamed MD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorMaha Abdelmoneim Elseed MD, Maha Abdelmoneim Elseed MD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorMustafa A.M. Salih MD, Dr Med Sci, Mustafa A.M. Salih MD, Dr Med Sci Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi ArabiaSearch for more papers by this authorMahmoud Eltayeb Koko MBBS, MSc, Mahmoud Eltayeb Koko MBBS, MSc Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAshraf Yahia Osman Mohamed MBBS, MSc, Ashraf Yahia Osman Mohamed MBBS, MSc Department of Biochemistry, Faculty of Medicine, National University, Khartoum, SudanSearch for more papers by this authorRayan Abubaker Siddig BSc, Rayan Abubaker Siddig BSc Faculty of Science, University of Elneelen, Khartoum, SudanSearch for more papers by this authorMustafa Idris Elbashir PhD, Mustafa Idris Elbashir PhD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorMuntaser Eltayeb Ibrahim PhD, Muntaser Eltayeb Ibrahim PhD Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAlexandra Durr MD, PhD, Alexandra Durr MD, PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, FranceSearch for more papers by this authorGiovanni Stevanin PhD, Giovanni Stevanin PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France Ecole Pratique des Hautes Etudes, Pitié-Salpêtrière Hospital, ICM, Paris, France APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, FranceSearch for more papers by this authorSuzanne Lesage PhD, Suzanne Lesage PhD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, FranceSearch for more papers by this authorAmmar Eltahir Ahmed MD, PhD, Ammar Eltahir Ahmed MD, PhD Faculty of Medicine, University of Khartoum, Khartoum, SudanSearch for more papers by this authorAlexis Brice MD, Alexis Brice MD Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière, Paris, France APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Paris, FranceSearch for more papers by this author First published: 24 December 2015 https://doi.org/10.1002/ana.24591Citations: 49Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume79, Issue2February 2016Pages 335-337 RelatedInformation
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