학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~20
Academic Journal
Matalonga, L; Hernandez-Ferrer, C; Piscia, D; Schule, R; Synofzik, M; Topf, A; Vissers, LELM; de Voer, R; Tonda, R; Laurie, S; Fernandez-Callejo, M; Pico, D; Garcia-Linares, C; Papakonstantinou, A; Corvo, A; Joshi, R; Diez, H; Gut, I; Hoischen, A; Graessner, H; Beltran, S
European journal of human genetics : EJHG. 29(9):1337-1347
Academic Journal
Figueroa-Bonaparte, S; Hudson, J; Barresi, R; Polvikoski, T; Williams, T; Töpf, A; Harris, E; Hilton-Jones, D; Petty, R; Willis, T A; Longman, C; Dougan, C F; Parton, M J; Hanna, M G; Quinlivan, R; Farrugia, M E; Guglieri, M; Bushby, K; Straub, V; Lochmüller, H; Evangelista, T
Journal of Neurology, Neurosurgery & Psychiatry. Jun 01, 2016 87(6):680-681
Academic Journal
Jirak, P; Mirna, M; Wernly, B; Hinterbuchner, L; Hauptmann, L; Fejzic, D; Topf, A; Lichtenauer, M; Hoppe, U; Hoefer, K; Schernthaner, C; Motloch, L
European Heart Journal: Acute Cardiovascular Care; 2022 Supplement, Vol. 11, p1-1, 1p
Electronic Resource
Oates, E ; https://orcid.org/0000-0002-8836-1681; Jones, K; Donkervoort, S; Charlton, A; Brammah, S; Smith, J; Ware, J; Yau, K; Swanson, L; Whiffin, N; Peduto, A; Bournazos, A; Waddell, L; Farrar, M ; https://orcid.org/0000-0002-4472-0902; Sampaio, H; Teoh, H ; https://orcid.org/0000-0002-4769-9942; Lamont, P; Mowat, D; Fitzsimmons, R; Corbett, A; Ryan, M; O'Grady, G; Sandaradura, S; Ghaoui, R; Joshi, H; Marshall, J; Nolan, M; Kaur, S; Punetha, J; Topf, A; Harris, E; Bakshi, M; Genetti, C; Marttila, M; Werkauff, U; Streichenberger, N; Pestronk, A; Mazanti, I; Pinner, J; Vuillerot, C; Grosmann, C; Camacho, A; Mohassel, P; Leach, M; Foley, A; Bharucha-Goeber, D; Collins, J; Connolly, A; Gilbreath, H; Iannaccone, S; Castro, D; Cummings, B; Webster, R; Lazaro, L; Vissing, J; Coppens, S; Deconinck, N; Luk, H; Thomas, N; Foulds, N; Illingworth, M; Ellard, S; McLean, C; Phadke, R; Ravenscroft, G; Witting, N; Hackman, P; Clarke, N; Lek, M; Beggs, A; Bonnemann, C; MacArthur, D; Granzier, H; Davis, M; Laing, N
urn:ISSN:0364-5134; urn:ISSN:1531-8249; Annals or Neurology, 83, 6, 1105-1124
Electronic Resource
Oates, EC; Jones, KJ; Donkervoort, S; Charlton, A; Brammah, S; Smith, JE; Ware, JS; Yau, KS; Swanson, LC; Whiffin, N; Peduto, AJ; Bournazos, A; Waddell, LB; Farrar, MA; Sampaio, HA; Teoh, HL; Lamont, PJ; Mowat, D; Fitzsimons, RB; Corbett, AJ; Ryan, MM; O'Grady, GL; Sandaradura, SA; Ghaoui, R; Joshi, H; Marshall, JL; Nolan, MA; Kaur, S; Punetha, J; Töpf, A; Harris, E; Bakshi, M; Genetti, CA; Marttila, M; Werlauff, U; Streichenberger, N; Pestronk, A; Mazanti, I; Pinner, JR; Vuillerot, C; Grosmann, C; Camacho, A; Mohassel, P; Leach, ME; Foley, AR; Bharucha-Goebel, D; Collins, J; Connolly, AM; Gilbreath, HR; Iannaccone, ST; Castro, D; Cummings, BB; Webster, RI; Lazaro, L; Vissing, J; Coppens, S; Deconinck, N; Luk, HM; Thomas, NH; Foulds, NC; Illingworth, MA; Ellard, S; McLean, CA; Phadke, R; Ravenscroft, G; Witting, N; Hackman, P; Richard, I; Cooper, ST; Kamsteeg, EJ; Hoffman, EP; Bushby, K; Straub, V; Udd, B; Ferreiro, A; North, KN; Clarke, NF; Lek, M; Beggs, AH; Bönnemann, CG; MacArthur, DG; Granzier, H; Davis, MR; Laing, NG
Academic Journal
Fatehi F; Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Okhovat AA; Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Nilipour Y; Pediatric Pathology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Mofid Children Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Mroczek M; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Palibrk A; Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Peric S; Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Rakocevic Stojanovic V; Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Nafissi S; Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Academic Journal
Paketci C; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. Electronic address: paketci@hotmail.com.; Edem P; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; Hiz S; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.; Sonmezler E; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.; Soydemir D; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; Sarikaya Uzan G; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; Oktay Y; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey; Department of Medical Biology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; O'Heir E; Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States.; Beltran S; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.; Laurie S; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.; Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research, Newcastle University and Newcastle Hospitals, Newcastle upon Tyne, United Kingdom.; Lochmuller 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, Catalonia, Spain; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Yis U; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE
Academic Journal
Servián-Morilla E; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Cabrera-Serrano M; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Pandey A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Ito A; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Rivas E; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.; Chamova T; Department of Neurology, Clinic of Nervous Diseases, University Hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.; Muelas N; Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain.; Mongini T; Neuromuscular Unit, Department of Neuroscience 'Rita Levi Montalcini', University of Torino, Torino, Italy.; Nafissi S; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.; Grewal RP; Department of Neuroscience, School of Health and Medical Sciences, Seton Hall University/Saint Francis Medical Center, Trenton, NJ, USA.; Takeuchi M; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Hao H; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Lopes Abath Neto O; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Medne L; Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA.; Brandsema J; Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA.; Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Taneva A; Department of Neurology, Clinic of Nervous Diseases, University Hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.; Vilchez JJ; Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain.; Tournev I; Department of Neurology, Clinic of Nervous Diseases, University Hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.; Haltiwanger RS; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Takeuchi H; Department of Molecular Biochemistry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.; Jafar-Nejad H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Paradas C; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. cparadas@us.es.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. cparadas@us.es.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
Academic Journal
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Sabouny R; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada.; Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Gauquelin L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Al Khatib I; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada.; Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Cummings BB; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Kaur R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Moore SA; Department of Pathology Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.; Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW 2145, Australia.; Farrar MA; Department of Neurology, Sydney Children's Hospital, Sydney, NSW, Australia.; UNSW Sydney, School of Women's and Children's Health, Sydney, NSW, Australia.; Goodrich JK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.; Chan SHS; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China.; Javed A; School of Biomedical Science, The University of Hong Kong, Hong Kong SAR, China.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Oregon Health and Science University, Neuromuscular Program, Doernbecher Children's Hospital, Portland, OR, USA.; Karachunski P; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.; Dalton J; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.; Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, USA.; Harper A; Department of Neurology, Virginia Commonwealth University, Children's Hospital of Richmond at VCU, Richmond, VA, USA.; Thompson C; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, USA.; Specht S; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Lamont RE; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, USA.; Racher H; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Mowat D; UNSW Sydney, School of Women's and Children's Health, Sydney, NSW, Australia.; Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Witting N; Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark.; Vissing J; Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark.; Hanson R; University of Missouri-Kansas City School of Medicine, Kansas City, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.; Coffman KA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.; Division of Neurology, Children's Mercy Hospital, Kansas City, USA.; Hainlen M; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.; Division of Neurology, Children's Mercy Hospital, Kansas City, USA.; Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Carnevale A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Care4Rare Research Consortium, Ottawa, Canada.; Mah JK; Departments of Pediatrics, Section of Neurology, University of Calgary, Calgary, AB, Canada.; Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Carsten.bonnemann@nih.gov.; Shutt TE; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada. timothy.shutt@ucalgary.ca.; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada. timothy.shutt@ucalgary.ca.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
Electronic Resource
Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A
Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20):1651-1655.
Academic Journal
Van den Bergh PYK; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium. Electronic address: peter.vandenbergh@uclouvain.be.; Sznajer Y; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium; Centre for Human Genetics, University Hospital St-Luc, University of Louvain, Brussels, Belgium.; Van Parys V; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium.; van Tol W; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Wevers RA; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Lefeber DJ; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Xu L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Phillips L; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
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: PubMed not MEDLINE
Academic Journal
Natera-de Benito D; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, CIBERER U703, Barcelona, Spain. Electronic address: daninatera@hotmail.com.; Töpf A; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Vilchez JJ; Department of Neurology, Hospital Universitari La Fe, Universitat de Valencia, CIBERER U763, Valencia, Spain.; González-Quereda L; Department of Genetics, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain.; Domínguez-Carral J; Department of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain.; Díaz-Manera J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.; Ortez C; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, CIBERER U703, Barcelona, Spain.; Bestué M; Department of Neurology, Hospital General San Jorge, Huesca, Spain.; Gallano P; Department of Genetics, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain.; Dusl M; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336 Munich, Germany.; Abicht A; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336 Munich, Germany; Medical Genetics Center, Munich, Germany.; Müller JS; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Senderek J; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336 Munich, Germany.; García-Ribes A; Department of Pediatrics, Hospital Universitario Cruces, Bilbao, Spain.; Muelas N; Department of Neurology, Hospital Universitari La Fe, Universitat de Valencia, CIBERER U763, Valencia, Spain.; Evangelista T; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Azuma Y; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; McMacken G; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Paipa Merchan A; Neuropathology Unit, Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain.; Rodríguez Cruz PM; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.; Camacho A; Department of Pediatric Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Jiménez E; Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Madrid, Spain.; Miranda-Herrero MC; Department of Neuropediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Santana-Artiles A; Department of Neuropediatrics, Complejo Hospitalario Universitario Insular Materno-Infantil, Las Palmas de Gran Canaria, Spain.; García-Campos O; Department of Neuropediatrics, Hospital Virgen de la Salud, Toledo, Spain.; Dominguez-Rubio R; Neuropathology Unit, Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain.; Olivé M; Neuropathology Unit, Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain.; Colomer J; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, CIBERER U703, Barcelona, Spain.; Beeson D; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.; Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Nascimento A; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, CIBERER U703, Barcelona, Spain.
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
Academic Journal
Van den Bergh PYK; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium. Electronic address: peter.vandenbergh@uclouvain.be.; Sznajer Y; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium; Centre for Human Genetics, University Hospital St-Luc, University of Louvain, Brussels, Belgium.; Van Parys V; Neuromuscular Reference Centre, University Hospital St-Luc, University of Louvain, Brussels, Belgium.; van Tol W; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Wevers RA; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Lefeber DJ; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.; Xu L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon-Tyne, United Kingdom.; Phillips L; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon-Tyne, United Kingdom.; Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon-Tyne, United Kingdom.; Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon-Tyne, United Kingdom.
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
Academic Journal
Natera-de Benito D; Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain. daninatera@hotmail.com.; Nascimento A; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Abicht A; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336, Munich, Germany.; Medical Genetics Center, Munich, Germany.; Ortez C; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Jou C; Pathology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Müller JS; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Evangelista T; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Töpf A; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Thompson R; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.; Jimenez-Mallebrera C; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Colomer J; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Academic Journal
Natera-de Benito D; Department of Pediatrics, Hospital Universitario de Fuenlabrada, Madrid, Spain. Electronic address: daninatera@hotmail.com.; Bestué M; Department of Neurology, Hospital General San Jorge, Huesca, Spain.; Vilchez JJ; Department of Neurology, Hospital Universitari La Fe, Valencia, Spain.; Evangelista T; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Töpf A; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; García-Ribes A; Department of Pediatrics, Hospital Universitario Cruces, Bilbao, Spain.; Trujillo-Tiebas MJ; Department of Genetics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.; García-Hoyos M; Department of Genetics, Instituto de Medicina Genómica, Valencia, Spain.; Ortez C; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Camacho A; Department of Pediatric Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Jiménez E; Department of Pediatrics, Hospital Universitario Rey Juan Carlos, Madrid, Spain.; Dusl M; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich 80336,Germany.; Abicht A; Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich 80336,Germany; Medical Genetics Center, Munich, Germany.; Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.; Colomer J; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.; Nascimento A; Department of Neuromuscular Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.
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
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