المؤلفون: Kerry A Miller, Louise H Williams, Hans-Henrik M Dahl, Shehnaaz S M Manji

المصدر: PLoS ONE, Vol 8, Iss 9, p e74243 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3781070?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6e3d9a5751d549ecb449b3bb60e32efc

المؤلفون: Hans-Henrik M Dahl, Teresa Y C Ching, Wendy Hutchison, Sanna Hou, Mark Seeto, Jessica Sjahalam-King

المصدر: PLoS ONE, Vol 8, Iss 3, p e59624 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3610796?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e4b1ff8bf08e40c08476724730df73ff

المؤلفون: Kerry A Miller, Louise H Williams, Elizabeth Rose, Michael Kuiper, Hans-Henrik M Dahl, Shehnaaz S M Manji

المصدر: PLoS ONE, Vol 7, Iss 12, p e51284 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3520982?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d7055fa0af4547088767169f6c5fc143

المؤلفون: Shehnaaz S M Manji, Louise H Williams, Kerry A Miller, Lisa M Ooms, Melanie Bahlo, Christina A Mitchell, Hans-Henrik M Dahl

المصدر: PLoS ONE, Vol 6, Iss 3, p e17607 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3057978?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/66b3bb9bee1a448193c836fec6c9afef

المؤلفون: Edwin P. Kirk, Robert W. Taylor, Canny Sugiana, Denise M. Kirby, Avihu Boneh, Hans Henrik M. Dahl, Renato Salemi, Katrina M. Bell, Akira Ohtake, David R. Thorburn, Michael T. Ryan, Lee Parry

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Adolescent, Respiratory chain, Biology, medicine.disease_cause, Models, Biological, DNA, Mitochondrial, Article, Oxidative Phosphorylation, Cell Line, Cell Fusion, medicine, Humans, Age of Onset, QH426, Gene, Genetics, NDUFS6, Mutation, Electron Transport Complex I, Models, Genetic, Point mutation, Genetic Complementation Test, NADH Dehydrogenase, General Medicine, Disease gene identification, Molecular biology, Mitochondria, Pedigree, Complementation, Child, Preschool, Lactates, Commentary, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d509e64439ba9680fdc699a1acc871a

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:142

مصطلحات 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

المؤلفون: Benjamin W. Darbro, Michael S. Hildebrand, Leanne M. Dibbens, Heather C Mefford, Susannah T. Bellows, Samuel F. Berkovic, Saul A. Mullen, Ingrid E. Scheffer, Todor Arsov, Kate M. Lawrence, John A. Damiano, Heather J. Major, Hans Henrik M. Dahl

المساهمون: Damiano, John A, Mullen, Saul A, Hildebrand, Michael S, Bellows, Susannah T, Lawrence, Kate M, Arsov, Todor, Dibbens, Leanne, Major, Heather, Dahl, Hans-Henrik M, Mefford, Heather C, Darbro, Benjamin W, Scheffer, Ingrid E, Berkovic, Samuel F

المصدر: Epilepsy Research. 117:70-73

مصطلحات موضوعية: Male, Proband, medicine.medical_specialty, DNA Copy Number Variations, alpha7 Nicotinic Acetylcholine Receptor, Epilepsy, symbols.namesake, Gene Frequency, Molecular genetics, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Copy-number variation, Allele, Alleles, Sanger sequencing, Chromosomes, Human, Pair 15, Polymorphism, Genetic, biology, CHRNA7, Complex traits, medicine.disease, Pedigree, Epilepsy and seizures, Neurology, Genetic Loci, biology.protein, symbols, Epilepsy, Generalized, Female, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb56cb908cad5258ba8e462cbe6d61b4
https://doi.org/10.1016/j.eplepsyres.2015.09.007

المؤلفون: Yuki Hitomi, Jacinta M McMahon, Samuel F. Berkovic, Myriam Rai, Hans-Henrik M. Dahl, Arvid Suls, Benjamin Legros, Peter De Jonghe, Ingrid E. Scheffer, Chantal Depondt, Patrick Van Bogaert, Simona Donatello, David Goldstein, Massimo Pandolfo, Sarah Weckhuysen, John A. Damiano, Erin L. Heinzen

المصدر: Annals of Neurology. 74:496-501

مصطلحات موضوعية: Genetics, Mutation, Biology, medicine.disease_cause, Compound heterozygosity, medicine.disease, Phenotype, Epilepsy, Neurology, Genotype, medicine, Missense mutation, Neurology (clinical), Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::602d627dd2f847eb3d51e8ff5effcc41
https://doi.org/10.1002/ana.23934

المؤلفون: Samuel F. Berkovic, Hans-Henrik M. Dahl, Ingrid E. Scheffer, Anaïs Thouin, Helen Young, Saul A. Mullen, Todor Arsov, Melinda Nolan, Douglas E. Crompton, John A. Damiano, Kate M. Lawrence, Linda L Huh, Lynette G. Sadleir

المصدر: Epilepsia. 53:e204-e207

مصطلحات موضوعية: Proband, Genetics, medicine.medical_specialty, Genetic counseling, Biology, medicine.disease, Gastroenterology, Epilepsy, Neurology, Internal medicine, Cohort, medicine, biology.protein, Missense mutation, GLUT1, Neurology (clinical), Haploinsufficiency, Atonic seizure

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3a60f3735540b639c86fb8c9b489bf69
https://doi.org/10.1111/epi.12007

المؤلفون: Shehnaaz S.M. Manji, Hans-Henrik M. Dahl, Kerry A. Miller, Louise H. Williams

المصدر: The American Journal of Pathology. 180:1560-1569

مصطلحات موضوعية: Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Mutant, Mutagenesis (molecular biology technique), Genes, Recessive, Biology, medicine.disease_cause, Pathology and Forensic Medicine, Mice, Species Specificity, otorhinolaryngologic diseases, medicine, Animals, Point Mutation, Amino Acid Sequence, Peptide sequence, Spiral ganglion, Genetics, Mutation, Base Sequence, Point mutation, Membrane Proteins, Mice, Mutant Strains, Transmembrane protein, Cochlea, Mice, Inbred C57BL, Disease Models, Animal, Hair Cells, Auditory, Outer, Transmembrane domain, medicine.anatomical_structure, Mutagenesis, Microscopy, Electron, Scanning, sense organs, Sequence Alignment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99837863fd8cd6a798f47fb23aaab211
https://doi.org/10.1016/j.ajpath.2011.12.034