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المؤلفون: Bernard Dan, Jennifer S. Goldman, Christopher A. Walsh, William B. Dobyns, Nicolas Deconinck, Frederick Andermann, Annapurna Poduri, Javad Nadaf, Dina Amrom, Eva Andermann, Bruno Pichon
المساهمون: Rehabilitation Research, Physiotherapy, Human Physiology and Anatomy, Clinical sciences
المصدر: American Journal of Medical Genetics Part A. 179:2343-2356
مصطلحات موضوعية: Male, Abnormalities, Multiple/diagnosis, Adolescent, Malformations of Cortical Development/diagnosis, Locus (genetics), Biology, Intellectual Disability, Chromosome Duplication, Gene duplication, Genetics, medicine, Polymicrogyria, Humans, Genetics(clinical), Abnormalities, Multiple, Genetic Predisposition to Disease, Gene, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Cell morphogenesis, Intellectual Disability/diagnosis, Infant, Newborn, Brain, Computational Biology, Facies, Computational Biology/methods, Perisylvian polymicrogyria, medicine.disease, Magnetic Resonance Imaging, Malformations of Cortical Development, Phenotype, medicine.anatomical_structure, Cerebral cortex, Brain/abnormalities, Chromosomes, Human, Pair 2, Female, Morphogen
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2دورية أكاديمية
المؤلفون: Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
المصدر: PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
المصدر: PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Ghislaine Savard, Frederick Andermann
المصدر: Behavioural Neurology, Vol 3, Iss 3, Pp 133-141 (1990)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Frederick Andermann, Zaid Afawi, Krystyna Spodar, Laura Licchetta, Francesca Bisulli, Rachel Straussberg, Laura Canafoglia, Snezana Maljevic, Bernt A. Engelsen, Silvana Franceschetti, Simone Mandelstam, Samuel F. Berkovic, Rikke S. Møller, Annette Wulf, Eva Andermann, João Massano, Francesca Ragona, Elena Gardella, Carlo Di Bonaventura, Steven Petrou, Patrizia Riguzzi, Guido Rubboli, Carol J. Milligan, Anna-Elina Lehesjoki, Karen Oliver, Ferruccio Panzica, Elena Pasini, Amos D. Korczyn, Mikko Muona, Roberto Michelucci, Daniel Friedman, Anna M. Boguszewska-Chachulska, Holger Lerche, Matthias Lindenau, Felix Benninger, Christopher A. Reid, Bruria Ben-Zeev, Paolo Tinuper, Arielle Crespel, Anetta Lasek-Bal
المساهمون: Oliver, Karen L, Franceschetti, Silvana, Milligan, Carol J, Muona, Mikko, Mandelstam, Simone A, Canafoglia, Laura, Boguszewska-Chachulska, Anna M, Korczyn, Amo, Bisulli, Francesca, Di Bonaventura, Carlo, Ragona, Francesca, Michelucci, Roberto, Ben-Zeev, Bruria, Straussberg, Rachel, Panzica, Ferruccio, Massano, João, Friedman, Daniel, Crespel, Arielle, Engelsen, Bernt A, Andermann, Frederick, Andermann, Eva, Spodar, Krystyna, Lasek-Bal, Anetta, Riguzzi, Patrizia, Pasini, Elena, Tinuper, Paolo, Licchetta, Laura, Gardella, Elena, Lindenau, Matthia, Wulf, Annette, Møller, Rikke S, Benninger, Felix, Afawi, Zaid, Rubboli, Guido, Reid, Christopher A, Maljevic, Snezana, Lerche, Holger, Lehesjoki, Anna-Elina, Petrou, Steven, Berkovic, Samuel F
المصدر: Oliver, K L, Franceschetti, S, Milligan, C J, Muona, M, Mandelstam, S A, Canafoglia, L, Boguszewska-Chachulska, A M, Korczyn, A D, Bisulli, F, Di Bonaventura, C, Ragona, F, Michelucci, R, Ben-Zeev, B, Straussberg, R, Panzica, F, Massano, J, Friedman, D, Crespel, A, Engelsen, B A, Andermann, F, Andermann, E, Spodar, K, Lasek-Bal, A, Riguzzi, P, Pasini, E, Tinuper, P, Licchetta, L, Gardella, E, Lindenau, M, Wulf, A, Møller, R S, Benninger, F, Afawi, Z, Rubboli, G, Reid, C A, Maljevic, S, Lerche, H, Lehesjoki, A-E, Petrou, S & Berkovic, S F 2017, ' Myoclonus epilepsy and ataxia due to KCNC1 mutation : Analysis of 20 cases and K(+) channel properties ', Annals of Neurology, vol. 81, no. 5, pp. 677-689 . https://doi.org/10.1002/ana.24929
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Hot Temperature, Epilepsies, Myoclonic, Corpus callosum, Epilepsy, 0302 clinical medicine, Age of Onset, Cognitive decline, Electroencephalography, Syndrome, Middle Aged, Magnetic Resonance Imaging, Pedigree, 3. Good health, Unverricht–Lundborg disease, Shaw Potassium Channels, Neurology, Spinocerebellar ataxia, Female, medicine.symptom, Psychology, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ataxia, Adolescent, KCNC1 mutation, Progressive myoclonus epilepsy, progressive myoclonus epilepsy, Young Adult, k+ channel, 03 medical and health sciences, Journal Article, medicine, Humans, Cognitive Dysfunction, myoclonu, ataxia, medicine.disease, HEK293 Cells, 030104 developmental biology, Mutation, epilepsy, Neurology (clinical), Myoclonus, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: STAMPA
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المؤلفون: Stanislav Kmoch, Petr Vyleťal, Frederick Andermann, Jakub Sikora, Lenka Nosková, Dita Musalkova, Jana Sovová, Viktor Stránecký, Anna Přistoupilová, Ivana Jedličková, Kateřina Hodaňová, Helena Hůlková, Hana Hartmannová, Patrick Cossette, Maxime Cadieux-Dion, Eva Andermann, Veronika Baresova
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Adult, Male, Biology, Article, law.invention, Cell Line, symbols.namesake, Mice, law, Neuronal Ceroid-Lipofuscinoses, Gene Duplication, Gene duplication, Genetics, medicine, Animals, Humans, Genetic Testing, Allele, Kufs disease, Gene, False Negative Reactions, Genetics (clinical), Polymerase chain reaction, Exome sequencing, Sanger sequencing, Neurons, Whole Genome Sequencing, Membrane Proteins, HSP40 Heat-Shock Proteins, Middle Aged, medicine.disease, Protein Transport, symbols, DNAJC5, Female, Protein Processing, Post-Translational
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المؤلفون: Cigdem Ozkara, Angelo Labate, Sara E. Mole, Alan McDougall, Antonio Gambardella, Michael S. Hildebrand, Sulekha Rajagopalan, Vincenzo Belcastro, Danya F. Vears, Hans Henrik M. Dahl, Loretta Giuliano, Karen Oliver, Michael Farrell, Vito Sofia, Barbara Garavaglia, Samuel F. Berkovic, Frederick Andermann, Julia Rankin, Silvana Franceschetti, Stirling Carpenter, Michela Morbin, Alessandro Simonati, Eva Andermann, Penina Krieger, Umberto Aguglia, John A. Damiano, Adam Zeman, Barbara Castellotti, Susan Brammah, Filippo M. Santorelli, Laura Canafoglia
المصدر: Brain (Online) 142 (2019): 59–69. doi:10.1093/brain/awy297
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo M. Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans-Henrik M. Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Progressive myoclonus epilepsy, Compound heterozygosity, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Kufs disease, medicine, Dementia, Humans, Age of Onset, Aged, business.industry, ataxia, neurodegeneration, Brain, Membrane Proteins, CLN6, Middle Aged, medicine.disease, Survival Rate, 030104 developmental biology, Mutation, neuronal ceroid lipofuscinosis, Female, Neuronal ceroid lipofuscinosis, Neurology (clinical), Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8a4d4b1478c3413fb6151e97cff45d
http://hdl.handle.net/20.500.11769/407712 -
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المؤلفون: Frederick Andermann, Richard J. Leventer, Waney Squier, Eva Andermann, Yves Robitaille, Anna Jansen, Nandini Mullatti, Mrinalini Honavar
المساهمون: Mental Health and Wellbeing research group, Neurogenetics
المصدر: Developmental Medicine & Child Neurology. 58:39-48
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Pathology, Adolescent, Autopsy, developmental stages, Neuropathology, Young Adult, 03 medical and health sciences, Fetus, 0302 clinical medicine, Developmental Neuroscience, Maldevelopment, Cortex (anatomy), medicine, Polymicrogyria, Humans, genetics, Child, Leptomeninges, Infant, Newborn, Brain, Infant, medicine.disease, Corticogenesis, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, histopathology, Histopathology, Neurology (clinical), Psychology, environment, 030217 neurology & neurosurgery
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المؤلفون: Mailys Daniau, Fabienne Picard, Doug Nordli, Franck Bielle, Eric LeGuern, Arnaud Biraben, Frederick Andermann, Dang Khoa Nguyen, Virginie Lambrecq, Eva Andermann, Francine Chassoux, Stéphanie Baulac, Saeko Ishida, Elise Marsan, Catherine Miquel, Sylvie Nguyen, Mihaela Vlaicu, Patrick Cossette
المصدر: Annals of Neurology. 77:675-683
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mutation, medicine.diagnostic_test, Brain biopsy, Biology, Cortical dysplasia, Bioinformatics, medicine.disease, medicine.disease_cause, DEPDC5, Germline, 3. Good health, Epilepsy, Germline mutation, Neurology, medicine, Epilepsy surgery, Neurology (clinical)
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