المؤلفون: Ying-Hui Fu, Agathe Roubertie, Alasdair G. W. Hunter, Louis J. Ptáček, Sau Wei Wong, Patrick Berquin, Jacques Rochette, Andrée Robaglia-Schlupp, Anne Gaëlle Lemoing, Barbara Royer, Jacques Motte, Patrice Roll, Pierre Szepetowski

المساهمون: Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), Laboratoire de Biologie Cellulaire [Hôpital de la Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Epileptic Disorders
Epileptic Disorders, John Libbey Eurotext, 2010, 12 (3), pp.199-204. ⟨10.1684/epd.2010.0328⟩

مصطلحات موضوعية: Paroxysmal choreoathetosis, Male, Pediatrics, medicine.medical_specialty, Neurology, [SDV]Life Sciences [q-bio], ICCA SYNDROME, Infantile seizures, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Chorea, Seizures, otorhinolaryngologic diseases, medicine, Humans, Age of Onset, Psychiatry, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, Autosomal dominant trait, Chromosome Mapping, Infant, Electroencephalography, General Medicine, DNA, Syndrome, Paroxysmal dyskinesia, medicine.disease, Pedigree, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee38cd84f8d54d261dfe0ce7a17ae634Test
https://hal-amu.archives-ouvertes.fr/hal-03508629Test

المؤلفون: Valeria A. Sansone, Hubert Kwieciński, Matthew R. Donaldson, Rabi Tawil, Ying-Hui Fu, Saïd Bendahhou, Anna Fidziańska, Martin Tristani-Firouzi, Judy L. Jensen, Louis J. Ptáček, Giovanni Meola, Nikki M. Plaster, Angelika Hahn

المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2002, xxx, pp.381-388

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Andersen Syndrome, Adolescent, Long QT syndrome, 030204 cardiovascular system & hematology, medicine.disease_cause, Article, Paralyses, Familial Periodic, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Andersen–Tawil syndrome, Internal medicine, medicine, Animals, Humans, cardiovascular diseases, Potassium Channels, Inwardly Rectifying, Child, 030304 developmental biology, 0303 health sciences, Mutation, business.industry, Kir2.1, Arrhythmias, Cardiac, Heart, Periodic paralysis, Cardiac action potential, Syndrome, General Medicine, Middle Aged, medicine.disease, 3. Good health, Electrophysiology, Long QT Syndrome, Endocrinology, cardiovascular system, Cardiology, Female, Rabbits, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f833d9ebf0d4c4c93da7fbd053af2cTest
https://hal.archives-ouvertes.fr/hal-00091062Test

المؤلفون: Yvon Trottier, H. Henrik Ehrsson, K. Lindblad, Monica Holmberg, Gilles David, Giovanni Stevanin, Gösta Holmgren, Anu Anttinen, C. Zander, Ali Benomar, Kathleen B. Digre, Martin Schalling, Alexis Brice, Eeva Nikoskelainen, Louis J. Ptáček, Marja-Liisa Savontaus

المساهمون: Karolinska University Hospital [Stockholm], Turku University Hospital, University of Turku, Neurologie Expérimentale et Thérapeutique, IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Utah School of Medicine [Salt Lake City], University of Turku, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Turku University of Applied Sciences (TUAS), Peney, Maité, Neurogenetics Unit, Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden, Department of Clinical Genetics, University Hospital, Umeh, Sweden, NSERM U289 and Federation de Neurologie, Hopital de Salpltriere, Paris, France, Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, Department of Neurology, University of Utah, Salt Lake City, Utah 841 12

المصدر: Genome Research
Genome Research, Cold Spring Harbor Laboratory Press, 1996, 6 (10), pp.965-971. ⟨10.1101/gr.6.10.965⟩
Genome Research, 1996, 6 (10), pp.965-971. ⟨10.1101/gr.6.10.965⟩

مصطلحات موضوعية: Male, Spinocerebellar Ataxia Type 1, congenital, hereditary, and neonatal diseases and abnormalities, Biology, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Genetics, medicine, Humans, Coding region, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Gene, Genetics (clinical), Spinocerebellar Degenerations, 030304 developmental biology, 0303 health sciences, Chromosome Mapping, medicine.disease, Pedigree, Phenotype, Cerebellar cortex, Anticipation (genetics), Spinocerebellar ataxia, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Chromosomes, Human, Pair 3, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66bb5e217131b9f6a3b056688e67f67dTest
https://hal.archives-ouvertes.fr/hal-03503801Test