المؤلفون: Elodie Hainque, Samantha Caillet, Sandrine Leroy, Constance Flamand-Roze, Isaac Adanyeguh, Fanny Charbonnier-Beaupel, Maryvonne Retail, Benjamin Le Toullec, Mariana Atencio, Sophie Rivaud-Péchoux, Vanessa Brochard, Florence Habarou, Chris Ottolenghi, Florence Cormier, Aurélie Méneret, Marta Ruiz, Mohamed Doulazmi, Anne Roubergue, Jean-Christophe Corvol, Marie Vidailhet, Fanny Mochel, Emmanuel Roze

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: Alternating hemiplegia of childhood, Triheptanoin, Crossover trial, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0713-2Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/a99b74495ac847fd9ca2c7591eb1311fTest

المؤلفون: Roubergue, Anne

المصدر: Bien-traitance, un trait d’union à conquérir. 2014, p. 65-76.

الإتاحة: https://www.cairn.info/bien-traitance-un-trait-d-union-a-conquerir--9782749240701-page-65.htmTest

المؤلفون: Hainque, Elodie, Caillet, Samantha, Leroy, Sandrine, Flamand-Roze, Constance, Adanyeguh, Isaac, Charbonnier-Beaupel, Fanny, Retail, Maryvonne, Le Toullec, Benjamin, Atencio, Mariana, Rivaud-Péchoux, Sophie, Brochard, Vanessa, Habarou, Florence, Ottolenghi, Chris, Cormier, Florence, Méneret, Aurélie, Ruiz, Marta, Doulazmi, Mohamed, Roubergue, Anne, Corvol, Jean-Christophe, Vidailhet, Marie, Mochel, Fanny, Roze, Emmanuel

المساهمون: French Association of Alternating Hemiplegia of Childhood, AFER

المصدر: Orphanet Journal of Rare Diseases ; volume 12, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-017-0713-2Test

المؤلفون: Hainque, Elodie, Caillet, Samantha, Leroy, Sandrine, Flamand-Roze, Constance, Adanyeguh, Isaac Mawusi, Charbonnier-Beaupel, Fanny, Retail, Maryvonne, Le Toullec, Benjamin, Atencio, Mariana, Rivaud-Péchoux, Sophie, Brochard, Vanessa, Habarou, Florence, Ottolenghi, Chris, Cormier, Florence, Méneret, Aurélie, Ruiz, Marta, Doulazmi, Mohamed, Roubergue, Anne, Corvol, Jean-Christophe, Vidailhet, Marie, Mochel, Fanny, Roze, Emmanuel

المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre d'investigation clinique Neurosciences CHU Pitié Salpêtrière (CIC Neurosciences), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), EpiScience London, UK, Service de Neurologie et Unité Neurovasculaire Centre Hospitalier Sud-Francilien, Université Paris-Sud - Paris 11 (UP11)-Centre Hospitalier Sud Francilien, IFPPC - Institut de formation et de recherche pour les professionnels de la santé & Centre de santé et de thérapies Psycho Corporelles Paris, CAMKeys Paris, Service de biochimie métabolique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Adaptation Biologique et Vieillissement = Biological Adaptation and Ageing (B2A), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), CHU Saint-Antoine AP-HP, Groupe de Recherche Clinique Neurométabolique Paris, Université Pierre et Marie Curie - Paris 6 (UPMC)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-01612741Test ; Orphanet Journal of Rare Diseases, 2016, 12 (1), pp.160. ⟨10.1186/s13023-017-0713-2⟩.

مصطلحات موضوعية: Triheptanoin, Crossover trial, Alternating hemiplegia of childhood, [SDV]Life Sciences [q-bio]

العلاقة: inserm-01612741; https://inserm.hal.science/inserm-01612741Test; https://inserm.hal.science/inserm-01612741/documentTest; https://inserm.hal.science/inserm-01612741/file/13023_2017_Article_713.pdfTest

الإتاحة: https://doi.org/10.1186/s13023-017-0713-2Test
https://inserm.hal.science/inserm-01612741Test
https://inserm.hal.science/inserm-01612741/documentTest
https://inserm.hal.science/inserm-01612741/file/13023_2017_Article_713.pdfTest

المؤلفون: Roubergue, Anne

المصدر: Incestes. 1995, p. 171-184.

الإتاحة: https://www.cairn.info/incestes--2908206544-page-171.htmTest

المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.

المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J

مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test

الإتاحة: https://doi.org/10.1186/s13023-015-0335-5Test
http://hdl.handle.net/11570/3162131Test

المؤلفون: Ewenczyk, C., Leroux, A., Roubergue, A., Laugel, V., Afenjar, A., Saudubray, J. M., Beauvais, P., de Villemeur, T. Billette, Vidailhet, M., Roze, E.

مصطلحات موضوعية: Article

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/awm337v1Test; http://dx.doi.org/10.1093/brain/awm337Test

الإتاحة: https://doi.org/10.1093/brain/awm337Test
http://brain.oxfordjournals.org/cgi/content/short/awm337v1Test

المؤلفون: Nathalie Dorison, Marion Gérard, Bernard Echenne, Gaetan Lesca, Maria Virginia Soldovieri, A Roubergue, Bénédicte Héron, Alain Calender, Audrey Riquet, Francesco Miceli, Julie Oertel, Mathieu Milh, Paolo Ambrosino, Diane Doummar, Stéphane Auvin, Maurizio Taglialatela, Cyril Mignot, Laetitia Lambert, Michela De Maria, Nadia Boutry-Kryza, Emilie Bourel

المساهمون: Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, Miceli, Francesco, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Taglialatela, Maurizio, Lesca, G.

المصدر: Human Mutation. 35:356-367

مصطلحات موضوعية: Male, Ohtahara syndrome, Syntaxin 1, CHO Cells, Biology, KCNQ3 Potassium Channel, Cohort Studies, Cricetulus, Familial, Germline mutation, Genetic, KCNQ2 Potassium Channel, Genetics, medicine, Animals, Humans, Homomeric, Voltage-gated potassium channel, Biotinylation, Gene, Germ-Line Mutation, Genetics (clinical), Benign Neonatal Epilepsy, KCNQ2, KCNQ3, Neonatal epilepsy, Psychomotor retardation, Animal, Genetic heterogeneity, medicine.disease, Epilepsy, Benign Neonatal, Pedigree, Mutagenesis, Insertional, Syntaxin-1A, CHO Cell, Benign, Female, Cohort Studie, Cricetulu, medicine.symptom, Sequence Alignment, Gene Deletion, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2612b687f9f61bc507296e53b93155Test
https://doi.org/10.1002/humu.22500Test

المؤلفون: A. Roubergue, J. Milosevic, J.M. Dupont, Aurélie Coussement, L. El Khattabi, L. Cuisset, D. Doummar, Géraldine Viot, B. Flageul, D. Le Tessier, Aziza Lebbar

المصدر: American Journal of Medical Genetics Part A. 164:3180-3186

مصطلحات موضوعية: Adult, Biology, Polymorphism, Single Nucleotide, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Isodisomy, Comparative Genomic Hybridization, Epilepsy, Mechanism (biology), Inverted duplication, Chromosome, Karyotype, medicine.disease, Chromosomes, Human, Pair 1, Karyotyping, Chromosome abnormality, Female, Homologous recombination, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938234d4e30ae395870ff1dc108d0692Test
https://doi.org/10.1002/ajmg.a.36777Test

المؤلفون: Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Lesca, G., MICELI, Francesco, TAGLIALATELA, MAURIZIO

المساهمون: Soldovieri, Mv, Boutry Kryza, N, Milh, M, Doummar, D, Heron, B, Bourel, E, Ambrosino, P, Miceli, Francesco, De Maria, M, Dorison, N, Auvin, S, Echenne, B, Oertel, J, Riquet, A, Lambert, L, Gerard, M, Roubergue, A, Calender, A, Mignot, C, Taglialatela, Maurizio, Lesca, G.

مصطلحات موضوعية: Benign, Familial, KCNQ2, KCNQ3, Neonatal epilepsy, Syntaxin-1A, Voltage-gated potassium channel, Animal, Biotinylation, CHO Cell, Cohort Studie, Cricetulu, Epilepsy, Benign Neonatal, Female, Gene Deletion, Germ-Line Mutation, Human, KCNQ2 Potassium Channel, KCNQ3 Potassium Channel, Male, Mutagenesis, Insertional, Pedigree, Sequence Alignment, Syntaxin 1, Genetic, Genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000331909600013; volume:35; issue:3; firstpage:356; lastpage:367; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11588/670041Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893921173

الإتاحة: https://doi.org/10.1002/humu.22500Test
http://hdl.handle.net/11588/670041Test