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1دورية أكاديمية
المؤلفون: Mark E. Gurney, Haifeng Pu, Arlene Y. Chiu, Mauro C. Dal Canto, Cynthia Y. Polchow, Denise D. Alex, Jan Caliendo, Afif Hentati, Young W. Kwon, Han-xiang Deng, Wenje Chen, Ping Zhai, Robert L. Sufit, Teepu Siddique, M. E. Gurney, H. Pu, D. D. Alex, Y. W. Kwon, A. Y. Chiu
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Samuel Tideman, Kelly Claire Simon, Tiffani Franada, Afif Hentati, Darryck Maurer, Monika Szela, Steven Meyers, Roberta Frigerio, Laura Hillman, Susan Rubin, Demetrius M. Maraganore
المصدر: Multiple Sclerosis Journal-Experimental, Translational and Clinical
مصطلحات موضوعية: clinical decision support, Best practices, Multiple sclerosis clinic, Quality management, Best practice, multiple sclerosis, Clinical decision support system, quality improvement, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, cohort studies, structured clinical documentation support, health services administration, Medicine, 030212 general & internal medicine, Point of care, Clinically isolated syndrome, business.industry, Multiple sclerosis, medicine.disease, 3. Good health, Original Research Paper, electronic health records, clinically isolated syndrome, Neurology (clinical), Medical emergency, business, 030217 neurology & neurosurgery, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffb587814c10b333258ae9d701783d36Test
https://doi.org/10.1177/2055217318813736Test -
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المؤلفون: Thomas T. Warner, Nigel G. Laing, Maria Tsaousidou, Philip A. Wilkinson, Andrew H. Crosby, Philippa J. Lamont, Heema Patel, Michael A. Patton, Ricardo E. Madrid, Fayçal Hentati, Afif Hentati, Michael A. Simpson, Yi Yang, Teepu Siddique, Karim Ouahchi
المصدر: The American Journal of Human Genetics. 82:510-515
مصطلحات موضوعية: Neuroactive steroid, CYP7B1, Molecular Sequence Data, Cytochrome P450 Family 7, Axonal loss, Biology, medicine.disease_cause, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Cytochrome P-450 Enzyme System, Report, Genetics, medicine, Homeostasis, Humans, Genetics(clinical), Amino Acid Sequence, Peptide sequence, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Spastic Paraplegia, Hereditary, Chromosome Mapping, Sequence Analysis, DNA, medicine.disease, Pedigree, Cell biology, Cholesterol, Liver, Steroid Hydroxylases, 030217 neurology & neurosurgery, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef6d7f2fcceaf5c92223804f9d9c1d9Test
https://doi.org/10.1016/j.ajhg.2007.10.001Test -
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المؤلفون: N. Cole, Han Xiang Deng, Ayesha Yagmour, Makito Hirano, Teepu Siddique, Yi Yang, Anser C. Azim, Wu Yen Hung, Fayçal Hentati, Mongi Ben-Hamida, Omar Dabbagh, Karim Ouahchi, Toru Sasaki, Margaret A. Pericak-Vance, Afif Hentati, Generoso G. Gascon, Jianhua Yan
المصدر: Nature Genetics. 29:160-165
مصطلحات موضوعية: Male, Genetic Linkage, Juvenile amyotrophic lateral sclerosis, Molecular Sequence Data, Genes, Recessive, Locus (genetics), GTPase, Biology, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Juvenile primary lateral sclerosis, Amino Acid Sequence, Cloning, Molecular, Amyotrophic lateral sclerosis, Gene, DNA Primers, Primary Lateral Sclerosis, Base Sequence, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Amyotrophic Lateral Sclerosis, medicine.disease, Pedigree, Mutation, Female, Guanine nucleotide exchange factor, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2911f0176e02f1105da90f2e42ed654Test
https://doi.org/10.1038/ng1001-160Test -
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المؤلفون: Naoum P. Issa, Afif Hentati
المصدر: Neurology. 84:99-100
مصطلحات موضوعية: medicine.medical_specialty, Gastroenterology, Lesion, Immunocompromised Host, Sphingosine, Internal medicine, Fingolimod Hydrochloride, medicine, Herpes Zoster Vaccine, Humans, Encephalitis, Varicella Zoster, business.industry, Multiple sclerosis, Middle Aged, Multiple Sclerosis, Chronic Progressive, medicine.disease, Fingolimod, Methylprednisolone, Propylene Glycols, Female, Neurology (clinical), Levetiracetam, medicine.symptom, business, Immunosuppressive Agents, Uveitis, Encephalitis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79a8dc9f582cfd3fcbfa275dfbd949bTest
https://doi.org/10.1212/wnl.0000000000001109Test -
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المؤلفون: Kirk C. Wilhelmsen, Kazuo Isozumi, Zafar Iqbal, Afif Hentati, Wu Yen Hung, Jocelyn Kaplan, Han Xiang Deng, Teepu Siddique, Margaret A. Pericak-Vance, Robert DeLong
المصدر: Human Molecular Genetics. 5:1377-1382
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genetic Linkage, Locus (genetics), Biology, Polymerase Chain Reaction, Muscular Atrophy, Spinal, Central nervous system disease, Atrophy, Gene mapping, Genetic linkage, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Molecular Biology, Genetics (clinical), Chromosomes, Human, Pair 12, Chromosome Mapping, Peroneal Nerve, General Medicine, Anatomy, Spinal muscular atrophy, medicine.disease, Pedigree, Scapula, Female, Lod Score
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::785982b29c91ec50e3c39bb96c03ea37Test
https://doi.org/10.1093/hmg/5.9.1377Test -
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المؤلفون: Christiane Ben Hamida, Jackie B. Rimmler, Wu Yen Hung, Marcy C. Speer, Afif Hentati, Margaret A. Pericak-Vance, Jonathan L. Haines, Robert H. Brown, Khemissa Bejaoui, Denise A. Figlewicz, Fayçal Hentati, Mongi Ben Hamida, Teepu Siddique
المصدر: Nature Genetics. 7:425-428
مصطلحات موضوعية: Adult, Genetic Markers, Male, Tunisia, Adolescent, Juvenile amyotrophic lateral sclerosis, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Gene mapping, Genetic linkage, Genetics, medicine, Humans, Amyotrophic lateral sclerosis, Child, Repetitive Sequences, Nucleic Acid, Polymorphism, Genetic, Amyotrophic Lateral Sclerosis, Chromosome Mapping, Chromosome, medicine.disease, Pedigree, Haplotypes, Genetic marker, Child, Preschool, Chromosomes, Human, Pair 2, Female, Lod Score, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1c90dcff42eeb75986892336b2180cTest
https://doi.org/10.1038/ng0794-425Test -
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المؤلفون: Teepu Siddique, Jan Caliendo, Haifeng Pu, Arlene Y. Chiu, Denise D. Alexander, Afif Hentati, Cynthia Y. Polchow, Young W. Kwon, Mark E. Gurney, Robert L. Sufit, Mauro C. Dal Canto, Ping Zhai, Han Xiang Deng, W. Chen
المصدر: Science. 264:1772-1775
مصطلحات موضوعية: Male, Genetically modified mouse, medicine.medical_specialty, SOD1, Mice, Transgenic, Biology, medicine.disease_cause, Motor Endplate, UBQLN2, Superoxide dismutase, Pathogenesis, Mice, Internal medicine, medicine, Animals, Humans, Motor Neuron Disease, Amyotrophic lateral sclerosis, Motor Neurons, Mutation, Multidisciplinary, Superoxide Dismutase, Muscles, Amyotrophic Lateral Sclerosis, Brain, Anatomy, Motor neuron, medicine.disease, Pedigree, Mice, Inbred C57BL, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, Spinal Cord, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac75d369e765b58bcfac751176e910cTest
https://doi.org/10.1126/science.8209258Test -
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المؤلفون: Edwin Soriano, Wu Yen Hung, Allen D. Roses, Afif Hentati, Teepu Siddique, Brian Herzfeldt, Hans E. Parge, Zafar Iqbal, Raymond P. Roos, Annarueber Cayabyab, Ping Hu, John A. Tainer, Aftab Ahmed, Han Xiang Deng, Elizabeth D. Getzoff, Celestine Smyth, Gang Deng, Margaret A. Pericak-Vance, Robert A. Hallewell, Carolyn Warner
المصدر: Science. 261:1047-1051
مصطلحات موضوعية: Models, Molecular, Protein Folding, Erythrocytes, Free Radicals, Molecular Sequence Data, SOD1, Mutant, Biology, medicine.disease_cause, Superoxide dismutase, Exon, X-Ray Diffraction, medicine, Humans, Coding region, Amino Acid Sequence, Amyotrophic lateral sclerosis, Mutation, Binding Sites, Multidisciplinary, Base Sequence, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Exons, medicine.disease, Molecular biology, Protein Structure, Tertiary, Hyaline inclusion, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c047aa6ea70f57445b8a93372e7b3a11Test
https://doi.org/10.1126/science.8351519Test -
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المؤلفون: Daniel R. Rosen, Teepu Siddique, David Patterson, Denise A. Figlewicz, Peter Sapp, Afif Hentati, Deirdre Donaldson, Jun Goto, Jeremiah P. O'Regan, Han-Xiang Deng, Zohra Rahmani, Aldis Krizus, Diane McKenna-Yasek, Annarueber Cayabyab, Sandra M. Gaston, Ralph Berger, Rudolph E. Tanzi, John J. Halperin, Brian Herzfeldt, Raymond Van den Bergh, Wu-Yen Hung, Thomas Bird, Gang Deng, Donald W. Mulder, Celestine Smyth, Nigel G. Laing, Edwin Soriano, Margaret A. Pericak–Vance, Jonathan Haines, Guy A. Rouleau, James S. Gusella, H. Robert Horvitz, Robert H. Brown
المصدر: Nature. 362:59-62
مصطلحات موضوعية: Juvenile amyotrophic lateral sclerosis, Molecular Sequence Data, SOD1, Polymerase Chain Reaction, TARDBP, UBQLN2, C9orf72, medicine, Animals, Humans, Amino Acid Sequence, Amyotrophic lateral sclerosis, Codon, Repetitive Sequences, Nucleic Acid, Genetics, Polymorphism, Genetic, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, biology, Genome, Human, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Autosomal dominant trait, DNA, Exons, medicine.disease, Isoenzymes, Copper chaperone for superoxide dismutase, Oligodeoxyribonucleotides, Mutation, biology.protein, Nucleic Acid Conformation, Lod Score, biology.gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e7fb5f1c5784e963af07be091ef52aTest
https://doi.org/10.1038/362059a0Test