المؤلفون: Lakhani, Shenela, Doan, Ryan, Almureikhi, Mariam, Partlow, Jennifer N, Saffar, Muna Al, Elsaid, Mahmoud F, Alaaraj, Nada, Barkovich, A James, Walsh, Christopher A, Ben-Omran, Tawfeg

المصدر: European Journal of Medical Genetics. 60(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Neurosciences, Brain Disorders, Clinical Research, Pediatric, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Arthrogryposis, Brain, Cell Adhesion Molecules, Neuronal, Consanguinity, Female, Frameshift Mutation, Humans, Infant, Newborn, Male, Pedigree, Arab, Arthrogryposis multiplex congenita, CNTNAP1, Cerebral atrophy, Qatar, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6kn9n6gh

المؤلفون: Garel, Pauline, Lesca, Gaetan, Ville, Dorothée, Poulat, Anne-Lise, Chatron, Nicolas, Sanlaville, Damien, Des Portes, Vincent, Arzimanoglou, Alexis, Lion-François, Laurence

المساهمون: Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant CHU - HCL (HFME), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique HCL, Lyon (Hôpital Femme Mère Enfant), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université de Lyon, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society ; https://hal.science/hal-03939339 ; European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2022, 37, pp.98-104. ⟨10.1016/j.ejpn.2022.01.015⟩

مصطلحات موضوعية: CASPR1, CNTNAP1, Contactin-associated protein, Dystonia, Hypomyelination, Hypotonia, MESH: Brain Diseases, MESH: Cell Adhesion Molecules, Neuronal, MESH: Phenotype, MESH: Pregnancy, MESH: Seizures, MESH: Exome Sequencing, MESH: Epilepsy, MESH: Female, MESH: Humans, MESH: Infant, Newborn, MESH: Mutation, Missense, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35182943; PUBMED: 35182943

الاتاحة: https://hal.science/hal-03939339
https://hal.science/hal-03939339v1/document
https://hal.science/hal-03939339v1/file/S1090379822000241.pdf
https://doi.org/10.1016/j.ejpn.2022.01.015

المؤلفون: Idoia Blanco-Luquin, Blanca Acha, Amaya Urdánoz-Casado, Eva Gómez-Orte, Miren Roldan, Diego R. Pérez-Rodríguez, Juan Cabello, Maite Mendioroz

المصدر: Cells; Volume 11; Issue 7; Pages: 1069

مصطلحات موضوعية: adult hippocampal neurogenesis, NPCs, Alzheimer’s disease, Aβ peptide, DNA methylation, gene expression, NXN, CNTNAP1, SEPT5-GP1BB, TBX5

وصف الملف: application/pdf

Relation: Cells of the Nervous System; https://dx.doi.org/10.3390/cells11071069

الاتاحة: https://doi.org/10.3390/cells11071069

المؤلفون: Khan, S., Umair, M., Abbas, S., Ali, U., Zaman, G., Ansar, M., Wang, R., Zhang, X., Houlden, H., Harlalka, G. V., Gul, A.

مصطلحات موضوعية: Adgrg1, Cntnap1, Wes, autosomal recessive, frontoparietal polymicrogyria, missense mutation, nonsense mutation

Relation: https://doi.org/10.1002/jgm.3513; Khan S, Umair M, Abbas S, Ali U, Zaman G, Ansar M, et al. Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes. The journal of gene medicine. 2023:e3513.; The journal of gene medicine; https://hdl.handle.net/11287/623010

الاتاحة: https://hdl.handle.net/11287/623010
https://doi.org/10.1002/jgm.3513

المؤلفون: Alex Magee, Stéphane Mathis, Robert A. Ouvrier, Jean Michel Vallat, Laurent Magy, Yann Péréon, Bertrand Isidor, B. Cogne, Stephan Züchner, Laurence Richard, Mathilde Nizon, Jérôme Devaux

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Limoges, Atlantic Gene Therapies, Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Neurologie [CHU Limoges], Service de Génétique, Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM), Astrophysique Interprétation Modélisation (AIM (UMR_7158 / UMR_E_9005 / UM_112)), Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7), Laboratoire d'études spatiales et d'instrumentation en astrophysique (LESIA), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre hospitalier universitaire de Nantes ( CHU Nantes ), Centre de recherche en neurobiologie - neurophysiologie de Marseille ( CRN2M ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), University of Miami Miller School of Medicine, Laboratoire AIM, Université Paris Diderot - Paris 7 ( UPD7 ) -Centre d'Etudes de Saclay, Laboratoire d'études spatiales et d'instrumentation en astrophysique ( LESIA ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut national des sciences de l'Univers ( INSU - CNRS ) -Observatoire de Paris-Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS )

المصدر: Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2016, ⟨10.1093/jnen/nlw093⟩
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2016, 〈10.1093/jnen/nlw093〉
Journal of Neuropathology and Experimental Neurology, 2016, ⟨10.1093/jnen/nlw093⟩

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Male, Pathology, medicine.medical_specialty, Cell Adhesion Molecules, Neuronal, CNTNAP1, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Schwann cell, Biology, Nerve biopsy, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Myelin, 0302 clinical medicine, Sural Nerve, medicine, Humans, Contactin, Axon, Node of Ranvier, medicine.diagnostic_test, Infant, Newborn, General Medicine, Axolemma, 3. Good health, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Neurology, nervous system, [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mutation, Original Article, Neurology (clinical), Sciatic nerve, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5be07e4b8bf048a2a8c711a695fff656
https://hal.archives-ouvertes.fr/hal-01474302

المؤلفون: Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Züchner, Stephan, Mathis, Stéphane, Vallat, Jean-Michel

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), CHU Limoges, Atlantic Gene Therapies, Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Neurologie CHU Limoges, Service de Génétique, Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM)

المصدر: ISSN: 0022-3069.

مصطلحات موضوعية: CNTNAP1, Contactin, Nerve biopsy, Node of Ranvier, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/27818385; hal-01474302; https://hal.science/hal-01474302; PUBMED: 27818385; PUBMEDCENTRAL: PMC6394372

الاتاحة: https://hal.science/hal-01474302
https://doi.org/10.1093/jnen/nlw093

المؤلفون: Sousa, A. D., Andrade, L. R., Salles, F. T., Pillai, A. M., Buttermore, E. D., Bhat, M. A., Kachar, B.

المصدر: The Journal of Neuroscience - The Official Journal of the Society for Neuroscience, 29(10)

مصطلحات موضوعية: Animals, Mice, Synapses, Intercellular Junctions, Hair Cells, Vestibular, KCNQ Potassium Channels, Cell Adhesion Molecules, Neuronal, Cntnap1 protein, mouse, Knockout, Rats

Relation: https://doi.org/10.17615/qppq-yc12; https://cdr.lib.unc.edu/downloads/jh3442023?file=thumbnail; https://cdr.lib.unc.edu/downloads/jh3442023

الاتاحة: https://doi.org/10.17615/qppq-yc12
https://cdr.lib.unc.edu/downloads/jh3442023?file=thumbnail
https://cdr.lib.unc.edu/downloads/jh3442023

المؤلفون: Nicolas Snaidero, Mikael Simons, Bettina Schmid, Ioannis Alexopoulos, Thomas Misgeld, Sebastian Timmler, Elior Peles, Manja Luckner, Minou Djannatian, Martina Arends, Wiebke Möbius, Marie-Theres Weil, Martina Schifferer

المصدر: Nature Communications 10(1), 4794 (2019). doi:10.1038/s41467-019-12789-z
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: 0301 basic medicine, Central Nervous System, Male, physiology [Cell Adhesion], General Physics and Astronomy, genetics [Zebrafish Proteins], Axon ensheathment, metabolism [Contactin 1], Animals, Genetically Modified, Myelin, 0302 clinical medicine, Axon, lcsh:Science, Zebrafish, Neural Cell Adhesion Molecules, Myelin Sheath, physiology [Myelin Sheath], Multidisciplinary, biology, Chemistry, Cell adhesion molecule, physiology [Central Nervous System], Cell biology, ddc, Myelin-Associated Glycoprotein, medicine.anatomical_structure, metabolism [Neural Cell Adhesion Molecules], myelin growth, Central nervous system, Cell bodies, Larva, Neural processing, metabolism [Myelin-Associated Glycoprotein], Female, ddc:500, metabolism [Zebrafish Proteins], genetics [Myelin-Associated Glycoprotein], Science, Cell Adhesion Molecules, Neuronal, Mice, Transgenic, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, metabolism [Cell Adhesion Molecules, Neuronal], Contactin 1, pathology [Myelin Sheath], medicine, Cell Adhesion, Animals, genetics [Neural Cell Adhesion Molecules], Cntnap1 protein, mouse, physiology [Axons], genetics [Zebrafish], cntn1a protein, zebrafish, Glial biology, Optic Nerve, Mag protein, mouse, General Chemistry, genetics [Cell Adhesion Molecules, Neuronal], Zebrafish Proteins, biology.organism_classification, Oligodendrocyte, Axons, genetics [Contactin 1], Mice, Inbred C57BL, 030104 developmental biology, nervous system, lcsh:Q, pathology [Optic Nerve], 030217 neurology & neurosurgery, Neuroscience, metabolism [Optic Nerve], Cntn1 protein, mouse

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c0be9e4b2ba66dd3673a929762c2a3e