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1دورية أكاديمية
المؤلفون: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديميةThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
المؤلفون: Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Rebecca Schüle, Teepu Siddique, Han-Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, Ricardo E. Madrid, Nailah Siddique, Ludger Schöls, Ingemar Björkhem
المصدر: Journal of Lipid Research, Vol 51, Iss 4, Pp 819-823 (2010)
مصطلحات موضوعية: oxysterol, 27-hydroxycholesterol, 25-hydroxycholesterol, CYP27A1, neurodegeneration, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520304910; https://doaj.org/toc/0022-2275
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المؤلفون: Julia, Pytte, Loren L, Flynn, Ryan S, Anderton, Frank L, Mastaglia, Frances, Theunissen, Ian, James, Abigail, Pfaff, Sulev, Koks, Ann M, Saunders, Richard, Bedlack, Daniel K, Burns, Michael W, Lutz, Nailah, Siddique, Teepu, Siddique, Allen D, Roses, P Anthony, Akkari
المصدر: Neurology: Genetics
مصطلحات موضوعية: Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6245882d6421c1f92beca146f2c882ab
https://pubmed.ncbi.nlm.nih.gov/32754644 -
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المصدر: Brain Communications
مصطلحات موضوعية: 0301 basic medicine, Phenocopy, Genetics, Mutation, aetiology, Genetic heterogeneity, Genetic counseling, neurodegeneration, General Engineering, phenocopy, Review Article, Disease, Biology, medicine.disease_cause, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Degenerative disease, Missing heritability problem, Pleiotropy, pleiotropy, medicine, inheritance, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81de42cd00e1cb6235d60f8d565f8dee
https://doi.org/10.1093/braincomms/fcaa120 -
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المؤلفون: Vincenzo Silani, Omar Jawdat, Sheena Chew, Annemarie Hübers, Jerome E. Kurent, Leonard H. van den Berg, Kourosh Rezania, Raghav Govindarajan, Osamu Kano, Teepu Siddique, Juan Marcos Solano Atehortua, Bjorn Oskarsson, Matthew B. Harms, John K. Fink, David Walk, Orla Hardiman, Senda Ajroud-Driss, Stephen N. Scelsa, Vivian E. Drory, Bryan Hill, Jose Americo M. Fernandes, Richard J. Barohn, Hiroshi Mitsumoto, Jennifer Murphy, Pam Factor-Litvak, and Family, James Wymer, Volkan Granit, Mitsuya Morita, Patricia L. Andres, Michael Benatar, Terry Heiman-Patterson, Frank Davis, Albert C. Ludolph, Philippe Corcia, Georg Haase, Nailah Siddique, Angela Genge, Justin Kwan, Dominic A. Ferrey, Christina Fournier, Bryan J. Traynor, Ian R. A. Mackenzie, Jinsy Andrews, Marka van Blitterswijk, David Pellerin, Ghazala Hayat, Dale J. Lange, John Ravits, Sabrina Paganoni, Edward D. Huey, Yasushi Kisanuki, Estela Area Gomez, Mamede de Carvalho, Mary Kay Floeter, Jeffrey Statland, Deborah L. Warden, Merit Cudkowicz, Giovanni Manfredi, Kristen Kau, Lauren Elman, Martin R Turner, Matthew C. Kiernan, Guy A. Rouleau, Sharon P. Nations, Robin Conwit, David Marren, Zachary Simmons, Suma Babu, Eoin Finegan, Peter Bede
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 21:1-2
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, MEDLINE, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Humans, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, Primary Lateral Sclerosis
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المؤلفون: Abigail L Pfaff, Nailah Siddique, Richard Bedlack, Ian James, Sulev Kõks, Loren L. Flynn, Frances Theunissen, Allen D. Roses, P. Anthony Akkari, Ryan S. Anderton, Michael W. Lutz, Julia Pytte, Ann M. Saunders, Daniel K. Burns, Teepu Siddique, Frank L. Mastaglia
المصدر: Neurology Genetics. 6:e470
مصطلحات موضوعية: 0301 basic medicine, Oncology, Sanger sequencing, medicine.medical_specialty, business.industry, SOD1, Disease, Odds ratio, medicine.disease, Confidence interval, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Cohort, medicine, symbols, Neurology (clinical), Allele, Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::91c35305d836741844e8e70d4a4e387a
https://doi.org/10.1212/nxg.0000000000000470 -
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المؤلفون: Teepu Siddique, Frank L. Mastaglia, Anthony Akkari, Richard Bedlack, Nailah Siddique, Ianthe Pitout, Loren L. Flynn, Ian James, Ryan S. Anderton, Leanne Jiang, Julia Pytte, Ann M. Saunders, Frances Theunissen
المصدر: Neurology: Genetics
مصطلحات موضوعية: Neuromuscular disease, Biology, medicine.disease_cause, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Sequestosome 1, Gene expression, medicine, Amyotrophic lateral sclerosis, education, Genetics (clinical), 030304 developmental biology, Genetics, Sanger sequencing, 0303 health sciences, Mutation, education.field_of_study, Intron, medicine.disease, Reverse transcription polymerase chain reaction, symbols, Neurology (clinical), 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37c7ac91a46256dc1c5dc6e1a6a1f7d9
https://doi.org/10.1212/nxg.0000000000000406 -
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المؤلفون: Robert L. Sufit, Patryk Purta, Amani A. Fawzi, Nailah Siddique, Eileen H. Bigio, Nicholas J. Volpe, Joseph M. Simonett, Heather E. Moss, Jessica L. Lowry, Teepu Siddique, Han Xiang Deng
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 15:569-580
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, genetic structures, Anterior Visual Pathway, DNA Mutational Analysis, Vision Disorders, Neuropathology, Diagnostic Techniques, Ophthalmological, Biology, Retina, Article, Glutamate Plasma Membrane Transport Proteins, C9orf72, medicine, Humans, In patient, Amyotrophic lateral sclerosis, Neurologic Examination, C9orf72 Protein, Ubiquitin, Amyotrophic Lateral Sclerosis, Proteins, Myelin Basic Protein, Middle Aged, medicine.disease, Pedigree, DNA-Binding Proteins, Excitatory Amino Acid Transporter 2, Neurology, Mutation, Mutation (genetic algorithm), Female, sense organs, Neurology (clinical)
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المؤلفون: Lisa Kinsley, Suzanne M. O'Neill, Nailah Siddique, Teepu Siddique, David Victorson, Deborah E. H. Hartzfeld
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16:114-119
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, Decision Making, Disease, Genetic Status, Middle Aged, Neuropsychological Tests, medicine.disease, Young Adult, Chose, Neurology, medicine, Humans, Female, Reproductive decision, Neurology (clinical), Amyotrophic lateral sclerosis, Cognition Disorders, Psychiatry, business, Qualitative research