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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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المؤلفون: José Rodríguez-Moreno, Lan Zhou, Knarik Arkun, Deeksha Bali, Dallas Reed, Robert Kalish, Mithila Vullaganti, Taha Bali, Óscar Soto
المصدر: Journal of clinical neuromuscular disease. 23(3)
مصطلحات موضوعية: Glycogen Storage Disease Type VII, Neurology, Phosphofructokinase-1, Muscle Type, Humans, Neurology (clinical), General Medicine, Africa South of the Sahara
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ac59a3a4a7ae9cee2e24658de3a63e
https://pubmed.ncbi.nlm.nih.gov/35188917 -
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المؤلفون: Brendon Binneman, Sana Syed, Alanna C. Cote, Taha Bali, Daniel R. Karlin, Ye Tan, Alexii Steinman, Kevin Thomas, Nina Shaafi Kabiri
المصدر: Journal of the Neurological Sciences. 391:40-44
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ataxia, Adolescent, Severity of Illness Index, 030226 pharmacology & pharmacy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Initial visit, Healthy volunteers, Humans, Medicine, Aged, business.industry, Significant difference, Age Factors, Reproducibility of Results, Middle Aged, medicine.disease, Healthy Volunteers, Neurology, Schizophrenia, Physical therapy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Peggy Allred, John Ravits, Alan Pestronk, Taha Bali, Robert H. Baloh, Robi D. Mitra, Alison Goate, Matthew B. Harms, Timothy M. Miller, Janet Cady
المصدر: Annals of Neurology. 77:100-113
مصطلحات موضوعية: Genetics, Oligogenic Inheritance, Biology, medicine.disease, Neurology, C9orf72, Genotype, Genetic variation, medicine, Neurology (clinical), Age of onset, Amyotrophic lateral sclerosis, Gene, Common disease-common variant
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6
المؤلفون: Leo H. Wang, Teepu Siddique, Jonathan D. Glass, James B. Caress, Jennifer Jockel-Balsarotti, Elena R. Fisher, Taha Bali, Timothy M. Miller, Alan Pestronk, Nazem Atassi, April McVey, Thomas D. Bird, Brian C. Callaghan, Tahseen Mozaffar, Merit Cudkowicz, Kevin B. Boylan, Stanley H. Appel, Glenn Lopate, Peggy Allred, James Wymer, Wade K. Self, Summer Gibson, Elena Ratti, Jingxia Liu, Nicholas J. Maragakis, Lorne Zinman, Leo McCluskey
المصدر: Journal of neurology, neurosurgery, and psychiatry, vol 88, iss 2
مصطلحات موضوعية: 0301 basic medicine, animal diseases, Vital Capacity, Neurodegenerative, Medical and Health Sciences, 0302 clinical medicine, Respiratory function, Amyotrophic lateral sclerosis, Age of Onset, education.field_of_study, Clinical Trials as Topic, Middle Aged, Natural history, Psychiatry and Mental health, Research Design, Disease Progression, Adult, medicine.medical_specialty, Neuromuscular disease, Population, Clinical Trials and Supportive Activities, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Internal medicine, medicine, Humans, education, Retrospective Studies, Neurology & Neurosurgery, business.industry, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Psychology and Cognitive Sciences, Neurosciences, nutritional and metabolic diseases, Retrospective cohort study, medicine.disease, nervous system diseases, Brain Disorders, Clinical trial, 030104 developmental biology, nervous system, Mutation, Physical therapy, Surgery, Neurology (clinical), Age of onset, ALS, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0e7e0b1edb68dc35f8b44d719561ec
https://escholarship.org/uc/item/0k87d0jh -
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المؤلفون: Janet, Cady, Peggy, Allred, Taha, Bali, Alan, Pestronk, Alison, Goate, Timothy M, Miller, Robi D, Mitra, John, Ravits, Matthew B, Harms, Robert H, Baloh
المصدر: Annals of neurology. 77(1)
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Adolescent, C9orf72 Protein, Genotype, Amyotrophic Lateral Sclerosis, Computational Biology, Genetic Variation, Proteins, Nerve Tissue Proteins, Middle Aged, United States, Article, Young Adult, Phenotype, Ataxins, Humans, Female, Longitudinal Studies, Age of Onset, Genetic Association Studies, Aged
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المؤلفون: Taha, Bali, Timothy M, Miller
المصدر: Missouri medicine. 110(5)
مصطلحات موضوعية: Diagnostic Imaging, Amyotrophic Lateral Sclerosis, Science of Medicine, Disease Management, Humans
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6c89f54258afa1eb335370f4297dc21f
https://pubmed.ncbi.nlm.nih.gov/24279194 -
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المؤلفون: Deepak Udayakumar, Taha Bali, Amy Joseph, Tarek Kteleh, Sarab Alfata
المصدر: Journal of Radiology Case Reports. 4
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, medicine.disease, Gout, Surgery, chemistry.chemical_compound, Joint disease, chemistry, Musculoskeletal Radiology, Monosodium urate, Antibiotic therapy, medicine, Back pain, Uric acid, Radiology, Nuclear Medicine and imaging, medicine.symptom, Paraspinal abscess, business, CT guided aspiration
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe158356ddb46e7ca5bc245a1ea0c26
https://doi.org/10.3941/jrcr.v4i6.332 -
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المؤلفون: Craig M. Zaidman, Taha Bali, Janet Cady, Alison Goate, Robert H. Baloh, John Ravits, Alan Pestronk, Ryan T. Libby, Paul R. Cooper, Carlos Cruchaga, Matthew B. Harms, Michael Baughn, Peggy Allred
المصدر: Neurobiology of Aging. 34:2234.e13-2234.e19
مصطلحات موضوعية: Genetics, Aging, Mutation, General Neuroscience, Neurodegeneration, Biology, medicine.disease_cause, medicine.disease, C9orf72 Protein, C9orf72, medicine, Dementia, Neurology (clinical), Geriatrics and Gerontology, Amyotrophic lateral sclerosis, Trinucleotide repeat expansion, Genotyping, Developmental Biology