부산대학교 도서관

Rodríguez Cruz, Pedro M ; Ravenscroft, Gianina ; Natera, Daniel ; Carr, Aisling ; Manzur, Adnan ; Liu, Wei Wei ; Vella, Norbert R ; Jericó, Ivonne ; Gonzalez-Quereda, Lidia ; Gallano, Pia ; Montalto, Simon Attard ; Davis, Mark R ; Lamont, Phillipa J ; Laing, Nigel G ; Bourque, Pierre ; Nascimento, Andres ; Muntoni, Francesco ; Polavarapu, Kiran ; Lochmüller, Hanns ; Palace, Jacqueline ; Beeson, David

In Neuromuscular Disorders February 2023 33(2):161-168

Spendiff, Sally; Dong, Yin; Maggi, Lorenzo; Rodríguez Cruz, Pedro M; Beeson, David; Lochmüller, Hanns

Neuromuscular Disorders. 33(9):111-118

Belhassen I; Laboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia. ikhlass_belhassen@medecinesfax.org.; Clinical Investigation Center, Habib Bourguiba University Hospital, Sfax, Tunisia. ikhlass_belhassen@medecinesfax.org.; Rodríguez Cruz PM; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona, Spain.; Sakka S; Laboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.; Clinical Investigation Center, Habib Bourguiba University Hospital, Sfax, Tunisia.; Nectoux J; Department of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Daoued S; Laboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.; Clinical Investigation Center, Habib Bourguiba University Hospital, Sfax, Tunisia.; Mhiri C; Laboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.; Clinical Investigation Center, Habib Bourguiba University Hospital, Sfax, Tunisia.; Leturcq F; Department of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Dammak M; Laboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.; Clinical Investigation Center, Habib Bourguiba University Hospital, Sfax, Tunisia.

Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE; In Process

Senghor HVF; Neurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Rubio RD; Unidad Funcional de Enfermedad de Motoneurona, Hospital Universitario de Bellvitge, Barcelona, Spain.; Marco C; Unidad Funcional de Enfermedad de Motoneurona, Hospital Universitario de Bellvitge, Barcelona, Spain.; Salazar-Villacorta A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, United Kingdom.; Padró-Miquel A; Laboratory of Molecular Genetics, Hospital Universitario de Bellvitge, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Spain; and.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Márquez F; Neurology Department, Hospital Universitari Doctor Josep Trueta, Girona, Spain.; Sy HA; Neurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Sy M; Neurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Povedano M; Unidad Funcional de Enfermedad de Motoneurona, Hospital Universitario de Bellvitge, Barcelona, Spain.; Diop AG; Neurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Ndiaye M; Neurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Rodríguez Cruz PM; Neurology Department, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, United Kingdom.; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Rawlins LE; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address: l.rawlins@exeter.ac.uk.; Maroofian R; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Cannon SJ; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom.; Daana M; Child Development Center, Clalit Health Care Services, Jerusalem, Israel.; Zamani M; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Ghani S; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom.; Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom.; Khan N; Interdisciplinary Nanoscience Center, Aarhus University, Aarhus, Denmark.; Khan H; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; Scardamaglia A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille, France.; Khan SA; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; Umair M; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Galehdari H; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.; Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Ahmad F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Rodriguez Cruz PM; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom; Centro Nacional de Análisis Genómico, Barcelona, Spain; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Salazar-Villacorta A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Ndiaye M; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Diop AG; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Owrang D; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Alhashem AM; Department of Radiology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.; Obeid M; The American University of Beirut, Beirut, Lebanon.; Khan A; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Lakki, Khyber Pakhtunkhwa, Pakistan; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Beydoun A; The American University of Beirut, Beirut, Lebanon.; Najjar M; The American University of Beirut, Beirut, Lebanon.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden.; Zifarelli G; Centogene GmbH, Rostock, Germany.; Bauer P; Centogene GmbH, Rostock, Germany.; Hakami WS; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Al Hashem AM; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Boustany RN; The American University of Beirut, Beirut, Lebanon.; Burglen L; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France; Centre de Référence des Malformations et Maladies congénitales du cervelet et Département de génétique, Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.; Alavi S; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom; Palindrome, Isfahan, Iran.; Gunning AC; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Owens M; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA.; Milh M; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille, France; Aix-Marseille Université, APHM, Service de Neurologie Pédiatrique, Hôpital de la Timone-Enfants, Marseille, France.; Salah S; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem, Israel.; Khan J; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany; Department of Biology, Chemistry, Pharmacy, Freie Universität Berlin, Berlin, Germany.; Wright CF; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom.; McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom; University of Plymouth, Plymouth, United Kingdom.; Elpeleg O; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem, Israel.; Shabbir MI; Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.; Houlden H; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, United Kingdom.; Ebner M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address: e.baple@exeter.ac.uk.; Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Royal Devon and Exeter Hospital, Exeter, United Kingdom. Electronic address: a.h.crosby@exeter.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Vanhaesebrouck, An E; Webster, Richard; Maxwell, Susan; Cruz, Pedro M Rodriguez; Cossins, Judith; Wickens, James; Liu, Wei-wei; Cetin, Hakan; Cheung, Jonathan; Ramjattan, Hayley; Palace, Jacqueline; Beeson, David; Rodriguez Cruz, Pedro M

Brain: A Journal of Neurology. Dec2019, Vol. 142 Issue 12, p3713-3727. 15p.

Rodríguez Cruz PM; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, United Kingdom.; Cossins J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, United Kingdom.; Beeson D; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, United Kingdom.; Vincent A; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, United Kingdom.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

Cruz, Pedro M Rodríguez; Palace, Jacqueline; Beeson, David; Rodríguez Cruz, Pedro M

Current Opinion in Neurology; 2014 Oct, Vol. 27 Issue 5, p566-575, 10p

Rodríguez Cruz, Pedro M; Vargas, Antonio; Fernández-Carballal, Carlos; Garbizu, Jose; De La Casa-Fages, Beatriz; Grandas, Francisco

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Rodríguez Cruz PM; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Neurosciences Group, The John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Cossins J; Neurosciences Group, The John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Cheung J; Neurosciences Group, The John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Maxwell S; Neurosciences Group, The John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Jayawant S; Department of Paediatric Neurology, Children's Hospital, John Radcliffe Hospital, Oxford, UK.; Herbst R; Center for Pathophysiology, Infectiology and Immunology, Medical Science Divisions, Medical University of Vienna, Vienna, Austria.; Waithe D; MRC Centre for Computational Biology and Wolfson Imaging Centre, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Kornev AP; Department of Pharmacology, University of California at San Diego, La Jolla, California.; Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Beeson D; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Neurosciences Group, The John Radcliffe Hospital, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Huda, Saif; Cao, Michelangelo; De Rosa, Anna; Woodhall, Mark; Rodriguez Cruz, Pedro M; Cossins, Judith; Maestri, Michelangelo; Ricciardi, Roberta; Evoli, Amelia; Beeson, David; Vincent, Angela

Neurol Neuroimmunol Neuroinflamm

Rodríguez Cruz PM; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Cossins J; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Estephan EP; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Munell F; Neuromuscular disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Selby K; University of British Columbia, Vancouver, British Columbia, Canada.; Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.; Maroofin R; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Mehrjardi MYV; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Chow G; Department of Paediatric Neurology, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, Hucknall Road, Nottingham, UK.; Carr A; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Manzur A; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.; Robb S; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.; Munot P; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.; Wei Liu W; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Fraser H; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; De Goede C; Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.; Zanoteli E; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Conti Reed U; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Sage A; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.; Gratacos M; Department of Clinical Neurophysiology, Hospital Universitari Vall d'Hebron, Barcelona Spain.; Macaya A; Neuromuscular disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Dusl M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital LMU Munich, Munich, Germany.; Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital LMU Munich, Munich, Germany.; Töpf A; Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, UK.; Hofer M; Department of Neuropathology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.; Knight R; Department of Clinical Neurophysiology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.; Ramdas S; Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.; Jayawant S; Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.; Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Palace J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Beeson D; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Rodríguez Cruz, Pedro M; Palace, Jacqueline; Ramjattan, Hayley; Jayawant, Sandeep; Robb, Stephanie A; Beeson, David

Neurology (NEUROLOGY), 9/22/2015; 85(12): 1043-1047. (5p)

Beeson D; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.; Cossins J; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.; Rodriguez Cruz PM; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.; Maxwell S; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.; Liu WW; Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, UK.; Palace J; Nuffield Department of Clinical Neuroscience, Level 3 The West Wing, The John Radcliffe, Oxford, UK.

Publisher: New York Academy of Sciences Country of Publication: United States NLM ID: 7506858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-6632 (Electronic) Linking ISSN: 00778923 NLM ISO Abbreviation: Ann N Y Acad Sci Subsets: MEDLINE

Vincent A; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Huda S; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Cao M; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Cetin H; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Koneczny I; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Rodriguez Cruz PM; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Jacobson L; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Viegas S; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Jacob S; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Woodhall M; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Nagaishi A; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Maniaol A; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Damato V; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Leite MI; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Cossins J; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Webster R; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Palace J; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Beeson D; Neuroimmunology Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

Publisher: New York Academy of Sciences Country of Publication: United States NLM ID: 7506858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-6632 (Electronic) Linking ISSN: 00778923 NLM ISO Abbreviation: Ann N Y Acad Sci Subsets: MEDLINE

Finlayson S; Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.; Morrow JM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; Rodriguez Cruz PM; Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.; Sinclair CD; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; Fischmann A; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; Thornton JS; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; Knight S; University of Oxford Centre for Clinical Magnetic Resonance Research, John Radcliffe Hospital, Oxford, UK.; Norbury R; University of Oxford Centre for Clinical Magnetic Resonance Research, John Radcliffe Hospital, Oxford, UK.; White M; Department of Paediatrics, University of Oxford and Children's Hospital, Oxford, UK.; Al-Hajjar M; Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.; Carboni N; Neurology Department, Hospital San Francesco of Nuoro, Sardinia, Italy.; Jayawant S; Department of Paediatrics, University of Oxford and Children's Hospital, Oxford, UK.; Robb SA; Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK.; Yousry TA; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford and Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Belaya K; 1 Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.; Rodríguez Cruz PM; 1 Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK 2 Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Liu WW; 1 Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.; Maxwell S; 1 Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.; McGowan S; 3 Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.; Farrugia ME; 4 Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.; Petty R; 4 Department of Neurology, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK.; Walls TJ; 5 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.; Sedghi M; 6 Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Basiri K; 7 Neurology Department, Neuroscience Research Centre, Isfahan University of Medical Sciences, Isfahan, Iran.; Yue WW; 8 Structural Genomics Consortium, University of Oxford, Oxford, OX3 7DQ, UK.; Sarkozy A; 9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 10 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.; Bertoli M; 9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Pitt M; 11 Department of Clinical Neurophysiology, Great Ormond Street Hospital for children NHS foundation trust, London WC1N 3JH.; Kennett R; 2 Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Schaefer A; 5 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.; Bushby K; 9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Parton M; 10 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.; Lochmüller H; 9 Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Palace J; 2 Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Muntoni F; 12 Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Institute of Child Health, London, WC1N 1EH, UK.; Beeson D; 1 Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK david.beeson@ndcn.ox.ac.uk.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Rodríguez Cruz PM; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England2Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, England.; Al-Hajjar M; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Huda S; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Jacobson L; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Woodhall M; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Jayawant S; Department of Paediatric Neurology, Children's Hospital, John Radcliffe Hospital, Oxford, England.; Buckley C; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Hilton-Jones D; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, England.; Vincent A; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Leite MI; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.; Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, England.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Rodríguez Cruz PM; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. Electronic address: pedro.rodriguezcruz@ndcn.ox.ac.uk.; Hughes I; Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Manzur A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and UCL Institute of Child Health, London, UK.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and UCL Institute of Child Health, London, UK.; Ramdas S; Department of Paediatric Neurology, Children's Hospital John Radcliffe Hospital, Oxford, UK.; Wright R; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Breen C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Pitt M; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Taylor JC; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Palace J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.; Beeson D; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Cossins J; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.; Webster R; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.; Maxwell S; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.; Rodríguez Cruz PM; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.; Knight R; Department of Clinical Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK.; Llewelyn JG; Neurology Department, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Shin JY; Department of Medicine, Columbia University Medical Centre, New York, NY 10032, USA.; Palace J; Department of Clinical Neurology, John Radcliffe Hospital, Oxford OX3 9DU, UK.; Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE