المؤلفون: Stéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, Guillaume Ha, Chaker Aloui, Françoise Bergametti, Minh Arnould, Hind Guenou, Jessica Hadjadj, Fanny Dubois Teklali, Florence Riant, Jean-Luc Balligand, Georges Uzan, Bruno O. Villoutreix, Elisabeth Tournier-Lasserve

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Moyamoya, Stroke, Nitric oxide, Soluble guanylate cyclase, Nitric oxide synthase, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/6cabf2f8d5794295b9752b231297c26aTest

المؤلفون: Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 565-572 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/b9e77851a8ca460bbbe9cd585caa65e1Test

المؤلفون: Florence Riant, Sylvain Redon, Christian Lucas, Laurence Le Moigno, Stéphane Auvin, Diana Ratiu, Agathe Roubertie, Nathalie Guy, Anne Donnet, Antoine Defo, Caroline Roos, Guillaume Baille, François Viallet, Elisabeth Tournier-Lasserve, Cecile Barbance, Alice Cahn, Nicolas Gaillard, Christel Thauvin, Caroline Rey, Florina Cata, Cécile Boulanger, Jessica Hadjadj, Evelyne Massardier, Emmanuel Cheuret, Sylvie Lamoureux, Geneviève Demarquay, Jean-Christophe Cuvellier, Anne Ducros, Marion Beltramone

المصدر: Neurology. 98:e51-e61

مصطلحات موضوعية: Proband, medicine.medical_specialty, Sleep disorder, business.industry, Paroxysmal dyskinesia, medicine.disease, Epilepsy, Migraine, ATP1A2, Internal medicine, medicine, Neurology (clinical), business, PRRT2, Familial hemiplegic migraine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3db7583c302a94f3cb28154c11a02deTest
https://doi.org/10.1212/wnl.0000000000012947Test

المؤلفون: Dominique Vidaud, Florence Riant, Lou Grangeon, Chaker Aloui, Françoise Bergametti, Jan Claudius Schwitalla, Markus Kraemer, Jessica Hadjadj, Stéphanie Guey, Severine Drunat, Minh Arnould, Michaelle Corpechot, Elisabeth Tournier-Lasserve

المصدر: Stroke. 50:789-796

مصطلحات موضوعية: Adult, Male, Proband, Adolescent, Ubiquitin-Protein Ligases, Angiopathy, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Gene Frequency, Exome Sequencing, Phosphoprotein Phosphatases, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Moyamoya disease, Age of Onset, Child, Gene, Alleles, Genetic Association Studies, Exome sequencing, Aged, 030304 developmental biology, Adenosine Triphosphatases, Advanced and Specialized Nursing, Genetics, 0303 health sciences, business.industry, Livedo racemosa, Middle Aged, medicine.disease, Pedigree, Europe, Mutation, Mendelian inheritance, symbols, Female, Neurology (clinical), Moyamoya Disease, medicine.symptom, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2b6c2c56ec702ec0fbfe4b310b1f15Test
https://doi.org/10.1161/strokeaha.118.023972Test

المؤلفون: Jessica Hadjadj, Florence Riant, Franck Rejou, Ganaelle Remerand, Véronique Humbertclaude, Pierre Meyer, Julie Piarroux, Lucile Pinson, Christine Coubes, Agathe Roubertie

المساهمون: Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Lariboisière, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 2Service de Génétique Moléculaire Neurovasculaire, Groupe hospitalier Saint-Louis - Lariboisière - Fernand Widal AP-HP, Paris, France, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de Néonatologie [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de Génétique Clinique, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut des Neurosciences de Montpellier (INM), MORNET, Dominique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Service de néonatologie, CHU Estaing, Clermont-Ferrand, France, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2020, ⟨10.1002/acn3.51005⟩
Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51005⟩
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 565-572 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Neurosciences. Biological psychiatry. Neuropsychiatry, Nystagmus, Brief Communication, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, RC346-429, Child, Episodic ataxia, business.industry, General Neuroscience, Postural tremor, Middle Aged, medicine.disease, Phenotype, Pedigree, Fibroblast Growth Factors, [SDV] Life Sciences [q-bio], 030104 developmental biology, Child, Preschool, Ataxia, Female, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, Brief Communications, 030217 neurology & neurosurgery, RC321-571

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938438e3c58044d41a66e0dfbb40a41aTest
https://hal.archives-ouvertes.fr/hal-02507985/documentTest