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1
المؤلفون: Siri Lynne Rydning, Jeanette Koht, Sjur Prestsæter, Chantal M. E. Tallaksen, Magnus Dehli Vigeland, Stian Tobias Juel Hoven, Foudil Lamari, Kaja Kristine Selmer
المساهمون: University of Oslo (UiO), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], 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), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Oslo University Hospital [Oslo]
المصدر: Journal of the Neurological Sciences
Journal of the Neurological Sciences, Elsevier, 2020, 419, pp.117211. ⟨10.1016/j.jns.2020.117211⟩مصطلحات موضوعية: Pathology, medicine.medical_specialty, MESH: Mutation, CYP7B1, Hereditary spastic paraplegia, MESH: Pedigree, [SDV]Life Sciences [q-bio], Physical examination, Norwegian, SPG5, Severity of Illness Index, 03 medical and health sciences, MESH: Brain, MESH: Hydroxycholesterols, 0302 clinical medicine, Pathognomonic, MESH: Severity of Illness Index, Hydroxycholesterols, medicine, Spastic, Humans, 030212 general & internal medicine, Genetic Testing, MESH: Spastic Paraplegia, Hereditary, MESH: Humans, medicine.diagnostic_test, MESH: Genetic Testing, business.industry, Spastic Paraplegia, Hereditary, Brain, Oxysterols, medicine.disease, language.human_language, 3. Good health, Pedigree, Neurology, Mutation, language, lipids (amino acids, peptides, and proteins), Neurology (clinical), Paraplegia, business, 030217 neurology & neurosurgery
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2
المؤلفون: Marie Coutelier, Alexandre Dionne-Laporte, Marion Stoll, Alexandra Durr, Perrine Charles, Isabel Alonso, Maxime Jacoupy, Marion Gaussen, Paula Coutinho, Fanny Mochel, Garth A. Nicholson, Fanny Morice-Picard, Stephan Züchner, Giovanni Stevanin, Juliette Konop, Rebecca Schüle, Chris Ottolenghi, Florence Habarou, José Leal Loureiro, Cyril Goizet, Raphaël Matusiak, Alexis Brice, Maxime Janin, S. Sara Morais, Christel Depienne, Guy A. Rouleau, Marina L. Kennerson, Frédéric Darios, Mathilde Mairey, Chantal M. E. Tallaksen, Jean-Marie Saudubray, Feifei Tao, Christelle M. Durand, Patrick Calvas
المساهمون: Université Catholique de Louvain = Catholic University of Louvain (UCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-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 de Bordeaux Pellegrin [Bordeaux], Université de Bordeaux (UB), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto, Instituto de Biologia Molecular e Celular - institute for molecular and cell biology [Porto, Portugal] (IBMC), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Dr. John T. Macdonald Foundation [Miami, FL, USA] (Department of Human Genetics), University of Miami [Coral Gables], John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM), Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia, Instituto de Investigação e Inovação em Saúde (I3S), Eberhard Karls University, CHU Toulouse [Toulouse], Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centro Hospitalar de Entre o Douro e Vouga, Hospital, McGill University, Centre d'infectiologie Necker-Pasteur [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut Pasteur [Paris], CARBILLET, Véronique, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universidade do Porto = University of Porto, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP]
المصدر: Brain 138(8), 2191-2205 (2015). doi:10.1093/brain/awv143
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
Brain-A Journal of Neurology, 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩مصطلحات موضوعية: Male, Ornithine, Candidate gene, Arginine, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Citrulline, Exome sequencing, Genetics, 0303 health sciences, Mutation, ALDH18A1, MESH: Middle Aged, delta-1-pyrroline-5-carboxylate synthase, genetics [Aldehyde Dehydrogenase], Middle Aged, Phenotype, 3. Good health, Pedigree, delta1-pyrroline-5-carboxylate synthase, human, MESH: Spastic Paraplegia, Hereditary / genetics, MESH: Young Adult, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, metabolism [Ornithine], Adult, Adolescent, Hereditary spastic paraplegia, MESH: Pedigree, metabolism [Arginine], Glutamic Acid, MESH: Ornithine / genetics, genetics [Mutation], MESH: Spastic Paraplegia, Hereditary / metabolism, Biology, MESH: Phenotype, MESH: Aldehyde Dehydrogenase / genetics, 03 medical and health sciences, Young Adult, genetics [Spastic Paraplegia, Hereditary], MESH: Arginine / metabolism, medicine, Humans, ddc:610, hereditary spastic paraplegia, 030304 developmental biology, MESH: Adolescent, genetics [Ornithine], MESH: Humans, Spastic Paraplegia, Hereditary, MESH: Mutation / genetics, MESH: Glutamic Acid / metabolism, metabolism [Glutamic Acid], MESH: Ornithine / metabolism, MESH: Adult, Original Articles, Aldehyde Dehydrogenase, medicine.disease, MESH: Male, chemistry, metabolism [Spastic Paraplegia, Hereditary], citrulline, ornithine, Neurology (clinical), MESH: Female, 030217 neurology & neurosurgery
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3
المؤلفون: Alessio Di Fonzo, Federica Locatelli, Stefania Corti, Giovanni Stevanin, Antonella Costa, Giacomo P. Comi, Nereo Bresolin, Roberto Del Bo, S. Ghezzi
المساهمون: Department of Neurological Sciences, University of Milan, IRCCS Eugenio Medea, IRCCS, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Neuroradiologic Unit, IRCCS Foundation, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Università degli Studi di Milano = University of Milan (UNIMI), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
المصدر: neurogenetics
neurogenetics, Springer Verlag, 2007, 8 (4), pp.301-5. ⟨10.1007/s10048-007-0095-z⟩
neurogenetics, 2007, 8 (4), pp.301-5. ⟨10.1007/s10048-007-0095-z⟩مصطلحات موضوعية: Male, Linkage disequilibrium, MESH: Base Sequence, medicine.disease_cause, Genetic analysis, Linkage Disequilibrium, MESH: Magnetic Resonance Imaging, Corpus Callosum, 0302 clinical medicine, Twins, Dizygotic, MESH: Proteins, Frameshift Mutation, Genetics (clinical), Sequence Deletion, Genetics, MESH: Spastic Paraplegia, Hereditary, 0303 health sciences, Mutation, Homozygote, MESH: DNA, MESH: Frameshift Mutation, MESH: Sequence Deletion, MESH: Amino Acid Substitution, Magnetic Resonance Imaging, Pedigree, Phenotype, MESH: Linkage Disequilibrium, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, MESH: Homozygote, Adult, MESH: Pedigree, Hereditary spastic paraplegia, Biology, MESH: Phenotype, MESH: Corpus Callosum, Frameshift mutation, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Humans, Gene, Loss function, 030304 developmental biology, MESH: Humans, Base Sequence, MESH: Twins, Dizygotic, Spastic Paraplegia, Hereditary, Proteins, MESH: Adult, DNA, medicine.disease, MESH: Male, Human genetics, Amino Acid Substitution, MESH: Female, 030217 neurology & neurosurgery
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4
المؤلفون: Elodie Martin, Sylvie Forlani, Michael Hutchinson, Alexis Brice, Cyril Goizet, Ali Benomar, Abdelmadjid Hamri, Alexandra Durr, Amir Boukhris, Chokri Mhiri, N. Elleuch, Filippo M. Santorelli, Sylvain Hanein, Paula C. Byrne, José Carlos Fernandez, Alexander Lossos, Imed Feki, Giovanni Stevanin, Paola S. Denora
المساهمون: Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), School of Medicine and Medical Science, University College of London [London] (UCL), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de Neurologie, Hôpital Benbadis, Départements de Neurologie B et Neurogénétique, Hôpital des Spécialités, Department of Neurology, Hadassah Hebrew University Medical Center [Jerusalem], Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Unit of Molecular Medicine, IRCCS, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), University College London, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2008, 82 (4), pp.992-1002. ⟨10.1016/j.ajhg.2008.03.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2008, 82 (4), pp.992-1002. ⟨10.1016/j.ajhg.2008.03.004⟩مصطلحات موضوعية: Male, Gene Expression, Endoplasmic Reticulum, 0302 clinical medicine, Distal amyotrophy, MESH: Child, Gene expression, Spastic, Genetics(clinical), MESH: Animals, MESH: Syndrome, Child, Genetics (clinical), Cells, Cultured, Genetics, MESH: Spastic Paraplegia, Hereditary, 0303 health sciences, Muscle Weakness, Mental Disorders, MESH: Muscle Weakness, Brain, Zinc Fingers, Syndrome, Physical Chromosome Mapping, Phenotype, 3. Good health, Pedigree, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Retinitis Pigmentosa, MESH: Cells, Cultured, Adult, MESH: Gene Expression, MESH: Mutation, MESH: Rats, Adolescent, MESH: Pedigree, MESH: Dysarthria, MESH: Carrier Proteins, Locus (genetics), Endosomes, Biology, MESH: Physical Chromosome Mapping, Article, MESH: Brain, 03 medical and health sciences, MESH: Endoplasmic Reticulum, Cerebellar Diseases, MESH: Mental Disorders, MESH: Zinc Fingers, Animals, Humans, Gene, 030304 developmental biology, MESH: Adolescent, Chromosomes, Human, Pair 14, MESH: Humans, Spastic Paraplegia, Hereditary, Dysarthria, Chromosome, MESH: Adult, MESH: Cerebellar Diseases, MESH: Male, Rats, MESH: Endosomes, FYVE domain, Mutation, MESH: Retinitis Pigmentosa, MESH: Chromosomes, Human, Pair 14, Carrier Proteins, MESH: Female, 030217 neurology & neurosurgery
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5
المؤلفون: Abdelmadjid Hamri, Paulo Alegria, Mathieu Anheim, Alexander Lossos, Masatoyo Nishizawa, Kiyoshi Iwabuchi, Cyril Goizet, José Leal Loureiro, Christel Depienne, Paula Coutinho, Florence Pasquier, Anne Kjersti Erichsen, Amir Boukhris, Vítor Tedim Cruz, Sylvie Forlani, Chokri Mhiri, Jeremy Truchetto, Filippo M. Santorelli, Alexandra Durr, Paola S. Denora, Christine Tranchant, Isabelle Le Ber, José Vale, Imed Feki, Hamid Azzedine, Giovanni Stevanin, Soreya Belarbi, Israela Lerer, G. Uyanik, Vardiela Meiner, Guillaume Garrigues, Alberto Luis Rosa, Alexis Brice, Chantal M. E. Tallaksen, Meriem Tazir, Masayoshi Tada, Victoria Gonzalez-Martinez, Didier Hannequin
المساهمون: Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Service de Neurologie, Hopital Mustapha, Department of Neurology, Hadassah Hebrew University Medical Center [Jerusalem], Laboratorio de Biologia Cellular y Molecular, Fundacion Allende and Sanatorio Allende, Department of Human Genetics, Hadassah-Hebrew University Medical Centre, Hôpital Benbadis, Serviçio Neurologia, Hospital De Egas Moniz, Departamento de Neurologia, Hospital S. Sebastiao, Niigata University, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Department of Genetics, University Hospital, Neurology Department, CHU Strasbourg, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Neurological Clinic of Yokohama, Yokohama, Department of Histopathology, Ullevål University Hospital, Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Ulleval University Hospital, Département de Neurologie, CHU Strasbourg-Hopital Civil, Service de Neurologie [Strasbourg], Unit of Molecular Medicine, IRCCS, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Département de neurologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)
المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2008, 131 (Pt 3), pp.772-84. ⟨10.1093/brain/awm293⟩
Brain-A Journal of Neurology, 2008, 131 (Pt 3), pp.772-84. ⟨10.1093/brain/awm293⟩مصطلحات موضوعية: Male, Genetic Linkage, DNA Mutational Analysis, Neurological disorder, MESH: Base Sequence, Corpus callosum, Gastroenterology, Corpus Callosum, MESH: Magnetic Resonance Imaging, MESH: Genotype, 0302 clinical medicine, MESH: Mental Retardation, MESH: Child, MESH: Motor Neuron Disease, MESH: Proteins, Cognitive decline, Age of Onset, MESH: DNA Mutational Analysis, Child, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, Cognitive disorder, Brain, Magnetic Resonance Imaging, 3. Good health, Pedigree, medicine.anatomical_structure, Phenotype, Child, Preschool, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Paraplegia, Psychology, Adult, medicine.medical_specialty, MESH: Mutation, Adolescent, Genotype, MESH: Pedigree, MESH: Age of Onset, Molecular Sequence Data, Genes, Recessive, MESH: Phenotype, MESH: Corpus Callosum, Lower motor neuron, 03 medical and health sciences, MESH: Brain, Internal medicine, Intellectual Disability, medicine, Humans, Motor Neuron Disease, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Spastic Paraplegia, Hereditary, MESH: Child, Preschool, Proteins, MESH: Adult, medicine.disease, MESH: Male, MESH: Cognition Disorders, Mutation, Physical therapy, Neurology (clinical), Age of onset, Cognition Disorders, MESH: Female, MESH: Linkage (Genetics), 030217 neurology & neurosurgery, Executive dysfunction
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6Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
المؤلفون: Diana Zelenika, Alexander Lossos, Ali Benomar, Zohar Argov, Stephan Klebe, Alexandra Durr, Alexis Brice, Naima Bouslam, Abdelmadjid Hamri, Meriem Tazir, N. Elleuch, D. Grid, Sylvain Hanein, Giovanni Stevanin, Delphine Bacq, Vardiella Meiner, N. Birouk, Mohamed Yahyaoui, Israela Lerer
المساهمون: Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Department of Neurogenetics, Hôpital des Spécialités, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: neurogenetics
neurogenetics, Springer Verlag, 2007, 8 (4), pp.307-15. ⟨10.1007/s10048-007-0097-x⟩
neurogenetics, 2007, 8 (4), pp.307-15. ⟨10.1007/s10048-007-0097-x⟩مصطلحات موضوعية: Male, Exon, Consanguinity, 0302 clinical medicine, Spastic, MESH: Syndrome, Genetics (clinical), Genetics, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, Chromosome Mapping, Syndrome, Arabs, Pedigree, Phenotype, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Adult, Adolescent, Hereditary spastic paraplegia, MESH: Pedigree, Locus (genetics), Biology, MESH: Phenotype, Genetic determinism, 03 medical and health sciences, Cellular and Molecular Neuroscience, Gene mapping, Genetic linkage, medicine, Humans, 030304 developmental biology, Chromosomes, Human, Pair 14, MESH: Adolescent, MESH: Consanguinity, MESH: Humans, Genetic heterogeneity, Spastic Paraplegia, Hereditary, MESH: Adult, MESH: Haplotypes, medicine.disease, MESH: Male, Haplotypes, MESH: Arabs, MESH: Chromosomes, Human, Pair 14, MESH: Microsatellite Repeats, MESH: Chromosome Mapping, MESH: Female, 030217 neurology & neurosurgery, Microsatellite Repeats
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7
المؤلفون: Jamilé Hazan, N. Elleuch, D. Grid, Stephan Klebe, Christel Depienne, Giovanni Stevanin, Elodie Denis, Hamid Azzedine, Ahmed Bouhouche, Naima Bouslam, Alexandra Durr, Sylvain Hanein, Alexis Brice, Sylvie Forlani, Céline Charon, Caroline Paternotte, Sandrine Poëa-Guyon
المساهمون: Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Neurology B and Neurogenetics unit, Hôpital des Spécialités, Généthon, Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley, 2007, 144B (7), pp.854-61. ⟨10.1002/ajmg.b.30518⟩
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2007, 144B (7), pp.854-61. ⟨10.1002/ajmg.b.30518⟩
Publonsمصطلحات موضوعية: Candidate gene, MESH: Sequence Analysis, DNA, Genetic Linkage, MESH: Pedigree, Genes, Recessive, Locus (genetics), Biology, MESH: Phenotype, Genetic determinism, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Gene mapping, Genetic linkage, Spastic, Humans, Genetics (clinical), MESH: Genes, Recessive, MESH: Genome, Human, 030304 developmental biology, Family Health, Genetics, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, MESH: Humans, Genome, Human, Spastic Paraplegia, Hereditary, Chromosome Mapping, Sequence Analysis, DNA, Pedigree, Psychiatry and Mental health, Phenotype, MESH: Family Health, Microsatellite, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Microsatellite Repeats, MESH: Chromosome Mapping, Candidate Gene Analysis, MESH: Chromosomes, Human, Pair 8, MESH: Linkage (Genetics), 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8, Microsatellite Repeats
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المؤلفون: Hamid Azzedine, Alessandro Filla, Merle Ruberg, Paula Coutinho, Filippo M. Santorelli, Enrico Bertini, Vítor Tedim Cruz, Elodie Martin, N. Elleuch, D. Grid, Jacques Chomilier, Alessandra Tessa, Naima Bouslam, Perrine Charles, Alexandra Durr, Bertrand Fontaine, Eric LeGuern, Paola S. Denora, Christian Confavreux, Giovanni Stevanin, Anne Marie Ouvrard-Hernandez, Alexis Brice, Meriem Tazir, José Leal Loureiro, Alexander Lossos
المساهمون: Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Unit of Molecular Medicine, IRCCS, UnIGENe, Universidade do Porto, Institut de minéralogie et de physique des milieux condensés (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-IPG PARIS-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Department of Neurology, Hadassah Hebrew University Medical Center [Jerusalem], Departamento de Neurologia, Hospital S. Sebastiao, Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Hopital Neurologique, Ministère de la santé, Service de Neurologie A-Hopital Neurologique Pierre Wertheimer, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Généthon, Service de Neurologie, Hopital Mustapha, Affections de la Myeline et des Canaux Ioniques Musculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neurological Sciences, Università degli studi di Napoli Federico II, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Mohammed V, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital neurologique, Hospices Civils de Lyon (HCL), Neurologie Expérimentale et Thérapeutique, IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Mustapha, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Department of Computer Science and Engineering, New York University [New York] (NYU), NYU System (NYU)-NYU System (NYU), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidade do Porto = University of Porto, Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut de Physique du Globe de Paris (IPG Paris)-Centre National de la Recherche Scientifique (CNRS), University of Naples Federico II = Università degli studi di Napoli Federico II, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Stevanin, G, Santorelli, Fm, Azzedine, H, Coutinho, P, Chomilier, J, Denora, P, Martin, E, OUVRARD HERNANDEZ, Am, Tessa, A, Bouslam, N, Lossos, A, Charles, P, Loureiro, Jl, Elleuch, N, Confavreux, C, Cruz, Vt, Ruberg, M, Leguern, E, Grid, D, Tazir, M, Fontaine, B, Filla, Alessandro, Bertini, E, Durr, A, Brice, A., Université Mohammed V de Rabat [Agdal] (UM5), 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)
المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.366-72. ⟨10.1038/ng1980⟩
Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.366-372. ⟨10.1038/ng1980⟩
Nature Genetics, 2007, 39 (3), pp.366-72. ⟨10.1038/ng1980⟩
Nature Genetics, 2007, 39 (3), pp.366-372. ⟨10.1038/ng1980⟩مصطلحات موضوعية: Genetic Linkage, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, MESH: Rats, Sprague-Dawley, MESH: Base Sequence, Corpus callosum, Corpus Callosum, Rats, Sprague-Dawley, MESH: Genotype, 0302 clinical medicine, MESH: Child, Chlorocebus aethiops, Spastic, MESH: Proteins, MESH: Animals, Age of Onset, MESH: DNA Mutational Analysis, Child, ComputingMilieux_MISCELLANEOUS, Genetics, Cerebral Cortex, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, Pedigree, MESH: COS Cells, COS Cells, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Paraplegia, Adult, MESH: Mutation, Adolescent, Genotype, MESH: Rats, MESH: Pedigree, MESH: Age of Onset, Molecular Sequence Data, Locus (genetics), Biology, MESH: Corpus Callosum, Frameshift mutation, 03 medical and health sciences, Chromosome 15, Genetic linkage, medicine, Animals, Humans, 030304 developmental biology, MESH: Adolescent, Chromosomes, Human, Pair 15, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Spastic Paraplegia, Hereditary, Proteins, MESH: Adult, medicine.disease, MESH: Cercopithecus aethiops, MESH: Cerebral Cortex, Rats, nervous system diseases, MESH: Lod Score, Corticospinal tract, Mutation, Lod Score, MESH: Linkage (Genetics), 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15
وصف الملف: STAMPA
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المؤلفون: Anne Boland-Augé, Giovanni Stevanin, Hamid Azzedine, Mohamed Yahyaoui, Stephan Klebe, Ali Benomar, Ahmed Bouhouche, Naima Bouslam, Silvia Di Giandomenico, Alexandra Durr, Alexis Brice, Filippo M. Santorelli, Sylvain Hanein
المساهمون: Neurology B and Neurogenetics unit, Hôpital des Spécialités, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Unit of Molecular Medicine, IRCCS, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Human Genetics
Human Genetics, Springer Verlag, 2007, 121 (3-4), pp.413-20. ⟨10.1007/s00439-007-0328-0⟩
Human Genetics, 2007, 121 (3-4), pp.413-20. ⟨10.1007/s00439-007-0328-0⟩مصطلحات موضوعية: Adult, Male, Ataxia, Cerebellar Ataxia, MESH: Pedigree, MESH: Age of Onset, Locus (genetics), Genes, Recessive, Biology, 03 medical and health sciences, Dysarthria, Consanguinity, 0302 clinical medicine, Genetics, medicine, Spastic, Humans, Spasticity, Age of Onset, MESH: Genes, Recessive, Genetics (clinical), 030304 developmental biology, Chromosome 13, MESH: Consanguinity, MESH: Spastic Paraplegia, Hereditary, 0303 health sciences, MESH: Humans, Autosome, Cerebellar ataxia, Spastic Paraplegia, Hereditary, Chromosome Mapping, MESH: Adult, MESH: Haplotypes, MESH: Male, MESH: Cerebellar Ataxia, 3. Good health, Pedigree, Haplotypes, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, MESH: Microsatellite Repeats, medicine.symptom, MESH: Chromosome Mapping, MESH: Chromosomes, Human, Pair 17, MESH: Female, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 17, Microsatellite Repeats
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المؤلفون: Patrick Bastien, Judith Melki, Michel Koenig, N. Elleuch, Stephan Klebe, Alexandra Durr, Hamid Azzedine, Alexis Brice, Céline Charon, Naima Bouslam, Giovanni Stevanin, Sylvie Forlani
المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2006, 129 (Pt 6), pp.1456-62. ⟨10.1093/brain/awl012⟩مصطلحات موضوعية: Male, Neural Conduction, MESH: Genotype, Consanguinity, 0302 clinical medicine, MESH: Neural Conduction, Age of Onset, Hereditary Sensory and Autonomic Neuropathies, Genetics, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, Pedigree, 3. Good health, MESH: Cerebellar Ataxia, Phenotype, Chromosomes, Human, Pair 2, Female, Cerebellar atrophy, medicine.symptom, Adult, Ataxia, Cerebellar Ataxia, Genotype, MESH: Pedigree, MESH: Age of Onset, MESH: Chromosomes, Human, Pair 2, Genes, Recessive, Locus (genetics), MESH: Phenotype, 03 medical and health sciences, Genetic linkage, medicine, Humans, MESH: Genes, Recessive, 030304 developmental biology, MESH: Consanguinity, MESH: Humans, Cerebellar ataxia, Spastic Paraplegia, Hereditary, Genetic heterogeneity, business.industry, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: Male, Peripheral neuropathy, MESH: Lod Score, MESH: Hereditary Sensory and Autonomic Neuropathies, Neurology (clinical), Lod Score, business, MESH: Female, 030217 neurology & neurosurgery
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المؤلفون: Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C.
المساهمون: Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-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), Unit of Molecular Medicine, IRCCS, Mendel Institute, Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, Pediatric Neurology and Neuromuscular Diseases Unit, Università degli studi di Genova = University of Genoa (UniGe), Service de Neurologie, Hopital Mustapha, Department of Neurosciences, Università degli Studi di Roma Tor Vergata [Roma], Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Neuroscience, Catholic University, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Besta Neurological Institute, Department of Pediatrics and Neuropediatrics, Georg-August-University = Georg-August-Universität Göttingen, Institute of Neurological Sciences, Department of Child Neurology, VU University Medical Center [Amsterdam], Medical Genetics, Università degli Studi di Ferrara = University of Ferrara (UniFE), Stella Maris, Department of Neurology and ORL, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Departamento de Neurologia, Hospital S. Sebastiao, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Stevanin, G, Montagna, G, Azzedine, H, Valente, Em, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, Am, DE MICHELE, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, VAN DER KNAPP, M, Neri, M, Tonekaboni, H, Melone, Mariarosa Anna Beatrice, Tessa, A, Dotti, Mt, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, Vt, Loureiro, Jl, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A, Santorelli, Fm, Pediatric surgery, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Universita degli studi di Genova, Georg-August-University [Göttingen], Università degli Studi di Ferrara (UniFE), University of Naples Federico II, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]
المصدر: neurogenetics
neurogenetics, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Neurogenetics, 7(3), 149-156. Springer Verlag
neurogenetics, Springer Verlag, 2006, 7 (3), pp.149-56. ⟨10.1007/s10048-006-0044-2⟩
Stevanin, G, Montagna, G, Azzedine, H, Valente, E M, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P S, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, A M O, De Michele, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, Van Der Knapp, M S, Neri, M, Tonekaboni, H, Melone, M A B, Tessa, A, Dotti, M T, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, V T, Loureiro, J L, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A & Santorelli, F M 2006, ' Spastic paraplegia with thin corpus callosum : Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity ', Neurogenetics, vol. 7, no. 3, pp. 149-156 . https://doi.org/10.1007/s10048-006-0044-2مصطلحات موضوعية: Male, Candidate gene, Genetic Linkage, Corpus Callosum, Consanguinity, Autosomal recessive hereditary spastic, Genetic heterogeneity, 0302 clinical medicine, MESH: Child, Spastic Paraplegia, Autosomal recessive hereditary spastic paraplegia, Linkage, SPG11, Thin corpus callosum, Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 15, Female, Humans, Infant, Lod Score, Pedigree, Phenotype, Spastic Paraplegia, Hereditary, Genes, Recessive, Genetic Heterogeneity, Genetics, Genetics (clinical), Cellular and Molecular Neuroscience, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, MESH: Genetic Heterogeneity, MESH: Infant, autosomal recessive hereditary spastic paraplegia, genetic heterogeneity, linkage, spg11, thin corpus callosum, Hereditary, Settore MED/26 - Neurologia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human, Hereditary spastic paraplegia, MESH: Pedigree, Locus (genetics), Biology, MESH: Phenotype, MESH: Corpus Callosum, Chromosomes, 03 medical and health sciences, Gene mapping, Genetic linkage, medicine, Recessive, Preschool, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Consanguinity, Autosome, MESH: Humans, Thin corpus callosum, SPG11, Linkage, Haplotype, MESH: Child, Preschool, Pair 15, medicine.disease, MESH: Male, Genes, MESH: Lod Score, MESH: Linkage (Genetics), MESH: Female, 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15
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