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المؤلفون: Lorraine V. Kalia, Graeme A. M. Nimmo, Tiago A. Mestre
المصدر: Seminars in Neurology. 43:147-155
مصطلحات موضوعية: Neurology, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e9d3979c86c159dc69baf99975249573
https://doi.org/10.1055/s-0043-1763507 -
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المؤلفون: Graeme A M Nimmo, Jeff Kobayashi, Dawn Cordeiro, Saadet Mercimek-Andrews, Danielle K. Bourque
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. :1-5
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Movement disorders, Ataxia, Monosaccharide Transport Proteins, Population, Glucose Transport Proteins, Facilitative, Epilepsy, Seizures, Intellectual disability, medicine, Humans, Missense mutation, Child, education, Dystonia, Glucose Transporter Type 1, education.field_of_study, business.industry, Infant, General Medicine, medicine.disease, Neurology, Neurology (clinical), Differential diagnosis, medicine.symptom, Diet, Ketogenic, business, Carbohydrate Metabolism, Inborn Errors
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المؤلفون: Maria L. Escolar, Neal Hermanowicz, María José Martí, Giovanna Zorzi, Graeme A. M. Nimmo, Laura Tochen, Saadet Mercimek-Andrews, Almut Turid Bischoff, Jamie L. Fraser, Hyder A. Jinnah, Tomasz Kmieć, Laura Cif, Victoria Gonzalez, Robert Jech, Aleksandar Videnovic, Marta Correa-Vela, Cecilia Bonnet, Feriandas Greblikas, Thomas Klopstock, Belén Pérez-Dueñas, Migvis Monduy, Nora Vanegas-Arroyave, Helle Cecilie Viekilde Pfeiffer, Colleen Burns, Cynthia L. Comella, Emmanuel Roze, Lluís Planellas, Anthony E. Lang, Nivedita Thakur
المساهمون: Institut Català de la Salut, [Klopstock T] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. German Center for Neurodegenerative Diseases (DZNE), Munich, Munich, Germany. Munich Cluster for Systems Neurology (SyNergy), Munich, Munich, Germany. [Videnovic A] Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA. [Bischoff AT] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. [Bonnet C] Department of Neurology, Sorbonne University, AP-HP Salpêtrière Hospital, Paris, France. [Cif L] Department of Neurosurgery, CHRU de Montpellier, Gui de Chauliac Hospital, Montpellier, France. [Comella C] Department of Neurosurgery and Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA. [Correa-Vela M, Perez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
Movement disorders 36(6), 1342-1352 (2020). doi:10.1002/mds.28392
Movement Disordersمصطلحات موضوعية: 0301 basic medicine, genetics [Pantothenate Kinase-Associated Neurodegeneration], medicine.medical_specialty, drug therapy [Pantothenate Kinase-Associated Neurodegeneration], Movement disorders, Neurologia pediàtrica, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Regular Issue Articles, Placebo, Other subheadings::Other subheadings::/drug therapy [Other subheadings], Pantothenic Acid, Pantothenate kinase-associated neurodegeneration, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, pantothenate kinase-associated neurodegeneration, Internal medicine, analogs & derivatives [Pantothenic Acid], fosmetpantotenate, Activities of Daily Living, Vitamines B, medicine, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::neurodegeneración asociada a pantotenato cinasa [ENFERMEDADES], Humans, ddc:610, Adverse effect, Research Articles, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Pantothenate Kinase-Associated Neurodegeneration [DISEASES], Pantothenate Kinase-Associated Neurodegeneration, pantothenate kinase–associated neurodegeneration, treatment, business.industry, Incidence (epidemiology), medicine.disease, Confidence interval, 030104 developmental biology, Neurology, Respiratory failure, randomized controlled trial, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Research Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5db53d3f026d8a4d72e0308c80ed988
https://hdl.handle.net/11351/7782 -
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المؤلفون: Ashutosh K. Pandey, Graeme A. M. Nimmo, Jessie M. Cameron, Peter N. Ray, Carolyn K. Suzuki, Kamalendra Singh, Lili-Naz Hazrati, Susan Blaser, Sundararajan Venkatesh, Sohnee Ahmed, Grace Yoon, Christian R. Marshall
المصدر: Human Molecular Genetics. 28:290-306
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Oxidative phosphorylation, Biology, Mitochondrion, DNA, Mitochondrial, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, ATP-Dependent Proteases, Cerebellar Diseases, Internal medicine, Genetics, medicine, Humans, Phosphorylation, Pyruvate Dehydrogenase Complex Deficiency Disease, Molecular Biology, Alleles, Genetics (clinical), Homozygote, Neurodegeneration, Infant, Newborn, Neurodegenerative Diseases, General Medicine, medicine.disease, Pyruvate dehydrogenase complex, Pedigree, Pyruvate dehydrogenase deficiency, Protein Subunits, 030104 developmental biology, Endocrinology, Mutation, Proteolysis, Lactates, 030221 ophthalmology & optometry, Cerebellar atrophy, General Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3b734bbe177c13e4bf54eb776661e7
https://doi.org/10.1093/hmg/ddy351 -
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المصدر: American journal of medical genetics. Part A. 176(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Ataxia, Mitochondrial Diseases, Biopsy, Developmental Disabilities, Hearing Loss, Sensorineural, Riboflavin, Receptors, G-Protein-Coupled, 03 medical and health sciences, Electron Transport Complex III, 0302 clinical medicine, Riboflavin Deficiency, Mitochondrial myopathy, Genetics, medicine, Humans, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Muscle biopsy, medicine.diagnostic_test, business.industry, Electron Transport Complex II, Muscle weakness, Infant, Membrane Transport Proteins, Mitochondrial Myopathies, Amyotrophy, medicine.disease, 030104 developmental biology, Disease Progression, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, Metabolism, Inborn Errors
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المؤلفون: Andrea Guerin, Graeme A. M. Nimmo, Dimitri J. Stavropoulos, Grace Yoon, Melissa T. Carter, Ramses Badilla-Porras
المصدر: American journal of medical genetics. Part A. 170(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Heart malformation, Developmental Disabilities, Trisomy, Biology, 03 medical and health sciences, Genetics, medicine, Humans, Child, Hydronephrosis, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Chronic constipation, Comparative Genomic Hybridization, Hepatobiliary disease, Facies, Infant, Low copy repeats, Anatomy, Short palpebral fissure, medicine.disease, 030104 developmental biology, Phenotype, Chromosomes, Human, Pair 1, Child, Preschool, Failure to thrive, Female, Growth delay, medicine.symptom, Chromosomes, Human, Pair 16
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المؤلفون: Nada Quercia, Roberto Mendoza-Londono, Sohnee Ahmed, Ryan K. C. Yuen, Michael J. Szego, Grace Yoon, Stacy Hewson, Giovanna Pellecchia, Michael Brudno, Richard A. Leach, Nasim Monfared, Babak Alipanahi, Ayeshah Chaudhry, Andreas Schulze, Robin Z. Hayeems, Pierre Sinajon, Melissa T. Carter, Mayada Helal, Peter N. Ray, Thomas Nalpathamkalam, Robert Klein, Cheryl Cytrynbaum, Bita Hashemi, Marta Girdea, Daniele Merico, Andrea Shugar, Julian Raiman, Nicole Parkinson, Christian R. Marshall, Randi Zlotnik Shaul, Michal Inbar-Feigenberg, Raymond H. Kim, Resham Ejaz, Soghra Jougheh Doust, Sarah Bowdin, Komudi Siriwardena, Eriskay Liston, Chris Carew, Maian Roifman, Dimitri J. Stavropoulos, Andrea Guerin, Leona Fishman, David Chitayat, M. Stephen Meyn, Peter Kannu, Heather MacDonald, Bhooma Thiruvahindrapuram, Graeme A. M. Nimmo, Stephen W. Scherer, Lucie Dupuis, Saadet Mercimek-Mahmutoglu, Ronald D. Cohn, Natalya Karp, Jonathan B. Kronick, Lauren Chad, Raith Erickson, Enas Nasr, Riyana Babul-Hirji, Ramses Badilla Porras, Brendan J. Frey, Rosanna Weksberg, Cheryl Shuman, Rebekah Jobling
المصدر: NPJ Genomic Medicine
Paediatrics Publicationsمصطلحات موضوعية: 0301 basic medicine, Whole genome sequencing, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic counseling, Computational biology, DNA sequencing, Article, 03 medical and health sciences, 030104 developmental biology, Genetic variation, Genetics, Medicine, Missense mutation, Copy-number variation, business, Indel, Molecular Biology, Genetics (clinical), Genetic testing
وصف الملف: application/pdf
