PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation-Reference-Cited by-同舟云学术

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Published:2019-07 Issue:2 Volume:86 Page:225-240
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Chelban Viorica¹²^ORCID,Wilson Matthew P.³,Warman Chardon Jodi⁴⁵⁶,Vandrovcova Jana¹,Zanetti M. Natalia⁷,Zamba‐Papanicolaou Eleni⁸⁹,Efthymiou Stephanie¹,Pope Simon¹⁰,Conte Maria R.¹¹,Abis Giancarlo¹¹^ORCID,Liu Yo‐Tsen¹²¹³¹⁴^ORCID,Tribollet Eloise¹,Haridy Nourelhoda A.¹¹⁵,Botía Juan A.¹⁶¹⁷,Ryten Mina¹⁶¹⁸,Nicolaou Paschalis⁸⁹,Minaidou Anna⁸⁹,Christodoulou Kyproula⁸⁹,Kernohan Kristin D.⁶¹⁹,Eaton Alison⁶,Osmond Matthew⁶,Ito Yoko⁶,Bourque Pierre⁴⁵,Jepson James E. C.⁷,Bello Oscar⁷,Bremner Fion²⁰,Cordivari Carla²¹,Reilly Mary M.¹,Foiani Martha²¹²²,Heslegrave Amanda²²²³,Zetterberg Henrik²²²³²⁴²⁵,Heales Simon J. R.¹⁰,Wood Nicholas W.¹²⁶,Rothman James E.⁷²⁷,Boycott Kym M.⁶,Mills Philippa B.³,Clayton Peter T.³,Houlden Henry¹²⁶,Kriouile Yamna,Khorassani Mohamed El,Aguennouz Mhammed,Groppa Stanislav,Marinova Karashova Blagovesta,Van Maldergem Lionel,Nachbauer Wolfgang,Boesch Sylvia,Arning Larissa,Timmann Dagmar,Cormand Bru,Pérez‐Dueñas Belen,Di Rosa Gabriella,Goraya Jatinder S.,Sultan Tipu,Mine Jun,Avdjieva Daniela,Kathom Hadil,Tincheva Radka,Banu Selina,Pineda‐Marfa Mercedes,Veggiotti Pierangelo,Ferrari Michel D.,van den Maagdenberg Arn M J M,Verrotti Alberto,Marseglia Giangluigi,Savasta Salvatore,García‐Silva Mayte,Ruiz Alfons Macaya,Garavaglia Barbara,Borgione Eugenia,Portaro Simona,Sanchez Benigno Monteagudo,Boles Richard,Papacostas Savvas,Vikelis Michail,Rothman James,Giunti Paola,Houlden Henry,Chelban Viorica,Salpietro Vincenzo,Oconnor Emer,Efthymiou Stephanie,Kullmann Dimitri,Kaiyrzhanov Rauan,Sullivan Roisin,Khan Alaa Matooq,Yau Wai Yan,Hostettler Isabel,Papanicolaou Eleni Zamba,Dardiotis Efthymios,Maqbool Shazia,Ibrahim Shahnaz,Kirmani Salman,Rana Nuzhat Noureen,Atawneh Osama,Lim Shen‐Yang,Shaikh Farooq,Koutsis George,Breza Marianthi,Mangano Salvatore,Scuderi Carmela,Borgione Eugenia,Morello Giovanna,Stojkovic Tanya,Torti Erin,Zollo Massimi,Heimer Gali,Dauvilliers Yves A.,Striano Pasquale,Al‐Khawaja Issam,Al‐Mutairi Fuad,Alkuraya Fowzan S,Sherifa Hamed,Rizig Mie,Okubadejo Njideka U.,Ojo Oluwadamilola O.,Oshinaike Olajumoke O.,Wahab Kolawole,Bello Abiodun H.,Abubakar Sanni,Obiabo Yahaya,Nwazor Ernest,Ekenze Oluchi,Williams Uduak,Iyagba Alagoma,Taiwo Lolade,Komolafe Morenikeji,Oguntunde Olapeju,Pchelina Sofya,Senkevich Konstantin,Haridy Nourelhoda,Shashkin Chingiz,Zharkynbekova Nazira,Koneyev Kairgali,Manizha Ganieva,Isrofilov Maksud,Guliyeva Ulviyya,Salayev Kamran,Khachatryan Samson,Rossi Salvatore,Silvestri Gabriella,Bourinaris Thomas,Xiromerisiou Georgia,Fidani Liana,Spanaki Cleanthe,Tucci Arianna,

Affiliation:

1. Department of Neuromuscular DiseasesUniversity College London Queen Square Institute of Neurology London United Kingdom

2. Department of Neurology and NeurosurgeryInstitute of Emergency Medicine Chisinau Moldova

3. Genetics and Genomic MedicineUniversity College London Great Ormond Street Institute of Child Health London United Kingdom

4. Department of Medicine (Neurology)University of Ottawa Ottawa Ontario Canada

5. Ottawa Hospital Research Institute Ottawa Ontario Canada

6. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa Ottawa Ontario Canada

7. Department of Clinical and Experimental EpilepsyUniversity College London Queen Square Institute of Neurology London United Kingdom

8. Cyprus Institute of Neurology and Genetics Nicosia Cyprus

9. Cyprus School of Molecular Medicine Nicosia Cyprus

10. Neurometabolic Unit, National Hospital for Neurology and Neurosurgery London United Kingdom

11. Randall Centre of Cell and Molecular Biophysics, School of Basic and Medical BiosciencesKing's College London London United Kingdom

12. Department of NeurologyNeurological Institute, Taipei Veterans General Hospital Taipei Taiwan

13. National Yang‐Ming University School of Medicine Taipei Taiwan

14. Institute of Brain Science, National Yang‐Ming University Taipei Taiwan

15. Department of Neurology and PsychiatryAssiut University Hospital, Faculty of Medicine Asyut Egypt

16. Reta Lila Weston Research LaboratoriesUniversity College London Queen Square Institute of Neurology London United Kingdom

17. Department of Information and Communications EngineeringUniversity of Murcia Murcia Spain

18. Department of Medical & Molecular GeneticsKing's College London, Guy's Hospital London United Kingdom

19. Newborn Screening Ontario, Children's Hospital of Eastern Ontario Ottawa Ontario Canada

20. Neuro‐ophthalmology DepartmentNational Hospital for Neurology and Neurosurgery London United Kingdom

21. Clinical Neurophysiology DepartmentNational Hospital for Neurology and Neurosurgery London United Kingdom

22. Department of Neurodegenerative DiseaseUniversity College London Queen Square Institute of Neurology London United Kingdom

23. UK Dementia Research Institute at University College London London United Kingdom

24. Clinical Neurochemistry LaboratorySahlgrenska University Hospital Mölndal Sweden

25. Department of Psychiatry and NeurochemistryInstitute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg Mölndal Sweden

26. Neurogenetics LaboratoryNational Hospital for Neurology and Neurosurgery London United Kingdom

27. Department of Cell BiologyYale School of Medicine New Haven CT

Funder

University College London

Wellcome Trust

Genome British Columbia

Genome Alberta

Canadian Institutes of Health Research

Ontario Genomics Institute

Genome Canada

Muscular Dystrophy UK

Publisher