المؤلفون: Kym M. Boycott, Lyndon Gallacher, Aziz Mhanni, Simon Sadedin, Xiaomin Dong, Kristin D. Kernohan, Arran McBride, Ismaël Alidou-D'Anjou, John Christodoulou, Zornitza Stark, Aren E Marshall, François Dragon, Samantha E Marin, Patrick Frosk, Marc R. Del Bigio, Sophie Sleiman

المصدر: Human Molecular Genetics. 31:614-624

مصطلحات موضوعية: Genetics, Dystonia, Saccharomyces cerevisiae Proteins, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Saccharomyces cerevisiae, General Medicine, Biology, medicine.disease, Compound heterozygosity, Phenotype, Dystonic Disorders, medicine, Humans, Small nucleolar RNA, RRNA processing, Molecular Biology, Genetics (clinical), Exome sequencing, Ribonucleoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6876a2f473d6b0271228df3c24e60761
https://doi.org/10.1093/hmg/ddab247

المؤلفون: Jens Wrogemann, Samantha E. Marin, Conor Mulholland, Michael S. Salman

المصدر: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 39(3)

مصطلحات موضوعية: genetic structures, Developmental Disabilities, Optic chiasm, Neuroimaging, Sixth nerve palsy, 03 medical and health sciences, 0302 clinical medicine, Maldevelopment, Seizures, medicine, Humans, Multiple abnormalities, business.industry, Cranial nerves, Cranial Nerves, Anatomy, medicine.disease, Phenotype, Magnetic Resonance Imaging, eye diseases, Cranial Nerve Diseases, Ophthalmology, medicine.anatomical_structure, Child, Preschool, 030221 ophthalmology & optometry, Female, Neurology (clinical), Brainstem, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::478e833d8594fbf3417f79c495ed7127
https://pubmed.ncbi.nlm.nih.gov/31008839

المؤلفون: Michael S. Salman, Conor Mulholland, Jens Wrogemann, Samantha E. Marin

المساهمون: Section of Pediatric Neurology (MSS, SEM), Children's Hospital, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada, Section of Pediatric Ophthalmology (CM), Children's Hospital, Department of Ophthalmology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada, Section of Pediatric Radiology (JW), Children's Hospital, Department of Radiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada

المصدر: Journal of Neuro-Ophthalmology, September 2019, Volume 39, Issue 3

Relation: https://collections.lib.utah.edu/ark:/87278/s66m8x9t

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s66m8x9t

المؤلفون: Russell P. Saneto, Samantha E. Marin

المصدر: Neurologic Clinics. 34:247-294

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Autism Spectrum Disorder, Mitochondrial disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Humans, Medicine, Bipolar disorder, Child, Psychiatry, Depression (differential diagnoses), business.industry, Mental Disorders, medicine.disease, 030104 developmental biology, Mitochondrial respiratory chain, Mood disorders, Autism spectrum disorder, Schizophrenia, Autism, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38fc0fe345833496b569a87287952a6d
https://doi.org/10.1016/j.ncl.2015.08.011

المؤلفون: David J.A. Callen, Samantha E. Marin

المصدر: Neuroimaging Clinics of North America

مصطلحات موضوعية: Male, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Encephalomyelitis, Disease, Nerve Fibers, Myelinated, Article, Diagnosis, Differential, Neuroimaging, Risk Factors, Acute disseminated encephalomyelitis, Image Interpretation, Computer-Assisted, medicine, Humans, Radiology, Nuclear Medicine and imaging, Age of Onset, Child, Intensive care medicine, Vestibular Neuronitis, Consensus guidelines, Inflammatory cascade, Tomography, Emission-Computed, Single-Photon, medicine.diagnostic_test, business.industry, Multiple sclerosis, Encephalomyelitis, Acute Disseminated, Molecular Mimicry, Brain, Magnetic resonance imaging, General Medicine, Prognosis, medicine.disease, Magnetic Resonance Imaging, Vaccination, Cross-Sectional Studies, Diffusion Magnetic Resonance Imaging, Child, Preschool, Positron-Emission Tomography, Practice Guidelines as Topic, Female, Neurology (clinical), Inflammation Mediators, Age of onset, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72f14de0d675bca4ac892d94bacc8515
https://doi.org/10.1016/j.nic.2012.12.005

المؤلفون: Brian H. Robinson, Ronit Mesterman, Mark A. Tarnopolsky, Jan A.M. Smeitink, Samantha E. Marin, Richard J. Rodenburg

المصدر: Gene, 516, 162-7
Gene, 516, 1, pp. 162-7

مصطلحات موضوعية: Male, Heterozygote, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Respiratory chain, NDUFV1, Biology, Compound heterozygosity, medicine.disease_cause, Frameshift mutation, Electron Transport, Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics, medicine, Humans, Mutation, Electron Transport Complex I, NDUFS2, Homozygote, Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], NADH Dehydrogenase, General Medicine, medicine.disease, Phenotype, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, Leigh Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9ef7afa44a1b6883d94315e3215e9
https://doi.org/10.1016/j.gene.2012.12.024

المؤلفون: Christine Till, Brenda B. Banwell, Samantha E. Marin

المصدر: Journal of Child Neurology. 28:1577-1586

مصطلحات موضوعية: Male, medicine.medical_specialty, Longitudinal study, Multiple Sclerosis, Adolescent, Pediatric onset, Disease, Neuropsychological Tests, Developmental psychology, Executive Function, Fluency, Physical medicine and rehabilitation, Cognitive development, medicine, Humans, Longitudinal Studies, Age of Onset, Child, Hand Strength, Multiple sclerosis, Cognitive flexibility, Association Learning, Cognition, medicine.disease, Cross-Sectional Studies, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Cognition Disorders, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d836cd2822db560e0e4fb52d8c450b
https://doi.org/10.1177/0883073812465010