Zobrazeno 1 - 10
of 8 766
pro vyhledávání: '"myasthenic"'
Autor:
Batheja A; School of Medicine, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA., Bayer-Vile J; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA., Silverstein E; Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA., Couser N; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.; Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Oct; Vol. 45 (5), pp. 481-487. Date of Electronic Publication: 2024 Jun 04.
Autor:
Smeets N; Child Neurology Unit, Department of Pediatrics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium. Electronic address: Nathalie.smeets@uzbrussel.be., Gheldof A; Center of Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium., Dequeker B; Center of Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium., Poleur M; University Department of Neurology, Citadelle Hospital of Liège, Liège, Belgium., Maldonado Slootjes S; Department of Neurology, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Van Parijs V; Department of Neurology, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Deconinck N; Department of Pediatric Neurology, Queen Fabiola Children's University Hospital, Université Libre De Bruxelles, Brussels, Belgium., Dontaine P; Department of Pediatric Neurology, Queen Fabiola Children's University Hospital, Université Libre De Bruxelles, Brussels, Belgium., Alonso-Jimenez A; Department of Neurology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium., De Bleecker J; Department of Neurology, Ghent University Hospital, Ghent, Belgium., De Ridder W; Department of Neurology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium., Herdewyn S; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Paquay S; Department of Neuropediatrics, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Vanlander A; Department of Pediatric Neurology and Metabolic Diseases, Ghent University Hospital, Ghent, Belgium., De Waele L; Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Peirens G; Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Beysen D; Department of Pediatric Neurology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven Brain Institute (LBI), Leuven, Belgium., Dubuisson N; Department of Neurology, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Hansen I; Department of Neurology, University of Liège, Centre Hospitalier Universitaire de Liège, Liège, Belgium., Remiche G; Department of Neurology, Hôpital Universitaire de Bruxelles - Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium., Seneca S; Center of Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium., Bissay V; NEUR Research Group and Department of Neurology, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium., Régal L; Child Neurology Unit, Department of Pediatrics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Sep; Vol. 158, pp. 57-65. Date of Electronic Publication: 2024 Jun 11.
Autor:
Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. Electronic address: daniel.natera@sjd.es., Pugliese A; IRCCS Centro Neurolesi 'Bonino-Pulejo', Neurology Unit, Messina, Italy., Polavarapu K; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria., Tournev I; Department of Neurology, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, Bulgaria., Afonso Ribeiro J; Neurology Department, Coimbra University Hospital Centre, Coimbra, Portugal., Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Martorell L; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico, Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico, Barcelona, Spain., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Lau J; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Thompson R; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Shen X; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Lochmüller H; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address: selcen.duygu@mayo.edu.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 5-13. Date of Electronic Publication: 2024 May 09.
Autor:
Oh SJ; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Oct; Vol. 70 (4), pp. 731-732. Date of Electronic Publication: 2024 Jul 28.
Autor:
Ramdas S; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford.; Department of Paediatric Neurology, John Radcliffe Hospital., Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS., Dong YY; Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS.
Publikováno v:
Current opinion in neurology [Curr Opin Neurol] 2024 Oct 01; Vol. 37 (5), pp. 493-501. Date of Electronic Publication: 2024 Jul 25.
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
Autor:
Monnens Y; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Theodoropoulou A; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rosier K; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Bhalla K; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Mahy A; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Vanhoutte R; Laboratory for Chemical Biology, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Meulemans S; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium., Cavani E; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Antanasijevic A; Global Health Institute, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lemmens I; VIB-UGent Center for Medical Biotechnology, Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Lee JA; Greenwood Genetic Center, South Carolina, USA., Spellicy CJ; Greenwood Genetic Center, South Carolina, USA., Schroer RJ; Greenwood Genetic Center, South Carolina, USA., Maselli RA; Department of Neurology, UCD, Sacramento, California, USA., Laverty CG; Department of Neuroscience, UCSD, San Diego, California, USA., Agostinis P; Laboratory for Cell death Research & Therapy, VIB, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Pagliarini DJ; Department of Biochemistry, University of Wisconsin-Madison, Madison, Wisconsin, USA., Verhelst S; Laboratory for Chemical Biology, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Marcaida MJ; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rochtus A; UZ Leuven University Hospital, Leuven, Belgium., Dal Peraro M; Laboratory for Biomolecular Modeling, Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Creemers JW; Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Publikováno v:
JCI insight [JCI Insight] 2024 Sep 10; Vol. 9 (17). Date of Electronic Publication: 2024 Sep 10.
Autor:
Prud'homme L; Département d'ophtalmologie 2, hôpital national d'ophtalmologie des Quinze-Vingts, Paris, France; Service d'ophtalmologie, Paris-Cité University, hôpital universitaire Necker-Enfants-Malades, AP-HP, Paris, France. Electronic address: drleoprudhomme@gmail.com., Gitiaux C; Département de neurologie pédiatrique et de neurophysiologie pédiatrique, hôpital Necker-Enfants-Malades, Paris, France; Centre de référence pour les maladies neuromusculaires « Garches-Necker-Mondor-Hendaye », Créteil, France; Département génétique et développement, institut Cochin, université Paris-Descartes, Paris, France., Barnerias C; Centre de référence pour les maladies neuromusculaires, Filnemus, EuroNMD, hôpital Necker-Enfants-Malades, AP-HP, Paris, France., Orssaud C; Unité ophtalmologie, service d'ophtalmologie, centre de référence des maladies rares en ophtalmologie (OPHTARA), hôpital européen Georges-Pompidou (HEGP), hôpital Necker-Enfants-Malades, 75015 Paris, France., Bremond-Gignac D; Service d'ophtalmologie, Paris-Cité University, hôpital universitaire Necker-Enfants-Malades, AP-HP, Paris, France; Centre de recherche des Cordeliers, Sorbonne Paris-Cité University, Paris, France., Robert MP; Service d'ophtalmologie, Paris-Cité University, hôpital universitaire Necker-Enfants-Malades, AP-HP, Paris, France; Centre de recherche des Cordeliers, Sorbonne Paris-Cité University, Paris, France.
Publikováno v:
Journal francais d'ophtalmologie [J Fr Ophtalmol] 2024 Sep; Vol. 47 (7), pp. 104202. Date of Electronic Publication: 2024 May 08.
Autor:
Muntadas JA; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Hyland MR; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Martínez MDRO; Pediatric Neurology, Hospital Italiano, Gascon 450. Capital Federal, Buenos Aires, 4959-0200, Argentina., Young JN; Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA., Chong JX; Brotman Baty Institute for Precision Medicine, 1959 NE Pacific St, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4245 Roosevelt Way NE, Seattle, WA, 98105, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, William H. Foege Hall, 3720 15th Ave NE, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, 1959 NE Pacific St, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4245 Roosevelt Way NE, Seattle, WA, 98105, USA., Maselli RA; Department of Neurology, University of California Davis, 1515 Newton Court, Davis, CA, 95618, USA. ramaselli@ucdavis.edu.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2024 Aug 12; Vol. 17 (1), pp. 207. Date of Electronic Publication: 2024 Aug 12.
Autor:
Leventoğlu E; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey. dremrelevent@gmail.com., Dönmez E; Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey., Uzun Kenan B; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Yazıcıoğlu B; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Büyükkaragöz B; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Fidan K; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Bakkaloğlu SA; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey., Söylemezoğlu O; Department of Pediatric Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Publikováno v:
CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 258-263. Date of Electronic Publication: 2023 Dec 01.
Autor:
Peterson E; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA., Rudolph TE; Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, Georgia, USA., Starr-Moss A; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA., Anderson K; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA., Lennon VA; Departments of Laboratory Medicine, Immunology and Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA., Shelton GD; Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California, USA., Clark LA; Department of Genetics and Biochemistry, College of Science, Clemson University, Clemson, South Carolina, USA.; Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, Georgia, USA.
Publikováno v:
Animal genetics [Anim Genet] 2024 Aug; Vol. 55 (4), pp. 702-704. Date of Electronic Publication: 2024 Jun 09.