المؤلفون: Jennifer J. Siranosian, Flavia C. Nery, Christiano R. R. Alves, Benjamin A. Siranosian, Nicholas J. Lyons, Eric J. Eichelberger, Reid Garner, Salomé Da Silva Duarte Lepez, Alec J. Johnstone, Aravind Subramanian, Kathryn J. Swoboda

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1158-1165 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/72ed395ae1464ce5bd19704a98667d36Test

المؤلفون: Flávia C. Nery, Salomé Da Silva Duarte Lepez, Eric J. Eichelberger, Jennifer J. Siranosian, Aravind Subramanian, Alec J. Johnstone, Benjamin A. Siranosian, Kathryn J. Swoboda, Christiano R. R. Alves, Reid Garner, Nicholas J. Lyons

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1158-1165 (2020)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, RHOA, Population, Neurosciences. Biological psychiatry. Neuropsychiatry, Spinal Muscular Atrophies of Childhood, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Family, education, RC346-429, Research Articles, Whole blood, education.field_of_study, biology, business.industry, General Neuroscience, Gene Expression Profiling, Spinal muscular atrophy, Fibroblasts, Middle Aged, Actin cytoskeleton, SMA, medicine.disease, Gene expression profiling, Actin Cytoskeleton, 030104 developmental biology, Gene Expression Regulation, Cancer research, biology.protein, Female, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, RC321-571, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b62e5b1ac677bbdd04fc8fe0c6625e7Test
http://europepmc.org/articles/PMC7359125Test

المؤلفون: Alec J. Johnstone, Salomé Da Silva Duarte Lepez, Eric J. Eichelberger, Reid Garner, Rebekah Poxson, Rachel Schwartz, Victoria L. Stevens, Christiano R. R. Alves, Kathryn J. Swoboda, Phillip G. Zaworski, Ren Zhang, Vivian Yi

المصدر: Muscle & Nerve

مصطلحات موضوعية: survival motor neuron, 0301 basic medicine, Male, medicine.medical_specialty, Physiology, animal diseases, Action Potentials, 030105 genetics & heredity, SMN protein levels, Severity of Illness Index, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Medicine, Humans, Muscle, Skeletal, Clinical Research Articles, spinal muscular atrophy, Whole blood, Denervation, Clinical Research Article, denervation, business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, Motor neuron, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, compound muscle action potential, nervous system diseases, Compound muscle action potential, medicine.anatomical_structure, Endocrinology, nervous system, Child, Preschool, Cohort, Nusinersen, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b1cba63de3d9a09449d652513bde9eTest
https://pubmed.ncbi.nlm.nih.gov/32696479Test

المؤلفون: Marc-Olivier Deguise, Abdurrahman W. Muhtaseb, Christiano R. R. Alves, Amita Sharma, Ivy A. Rosales, Ren Zhang, Rashmi Kothary, Flávia C. Nery, Kathryn J. Swoboda, Pann H. Nwe, Alec J. Johnstone, Natassja Huemer, Jennifer J. Siranosian, Maryam Fatouraei

المصدر: Neurology: Genetics

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Article, Nephrotoxicity, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Polycystic kidney disease, Genetics (clinical), Creatinine, Kidney, biology, business.industry, Spinal muscular atrophy, SMA, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, chemistry, Cystatin C, biology.protein, Neurology (clinical), Nephrocalcinosis, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dea70ccb4c78f4fcad91356e041d980Test
https://pubmed.ncbi.nlm.nih.gov/31517062Test

المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno

مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793Test
https://europepmc.org/articles/PMC6503527Test/