نتائج البحث - "Lauren E. Bowser"

1

دورية أكاديمية

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

المؤلفون: Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 1972-1984 (2023)

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/aed2e23aa754450b8426dda69cb75b30Test

View record in DOAJ

النص الكامل

2

دورية أكاديمية

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

المؤلفون: Vincent J Carson, Erik G Puffenberger, Lauren E Bowser, Karlla W Brigatti, Millie Young, Dominika Korulczyk, Ashlin S Rodrigues, KaLynn K Loeven, Kevin A Strauss

المصدر: PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC6126807?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/b0b1f5ec37954fb1bcb69e96611e98ebTest

View record in DOAJ

النص الكامل

3

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

المصدر: Molecular Genetics and Metabolism. 129:193-206

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Anabolism, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030105 genetics & heredity, Liver transplantation, Bioinformatics, Biochemistry, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Maple Syrup Urine Disease, Amino acid homeostasis, Leucine, Genetics, Humans, Medicine, Cognitive Dysfunction, Child, Molecular Biology, chemistry.chemical_classification, business.industry, Mental Disorders, Maple syrup urine disease, Homozygote, Infant, Middle Aged, medicine.disease, Dehydrogenase deficiency, Diet, Liver Transplantation, Amino acid, Phenotype, chemistry, Child, Preschool, Metabolic control analysis, Female, business, Amino Acids, Branched-Chain, Biomarkers, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86af95984cf0f1393318580bd7a2c565Test
https://doi.org/10.1016/j.ymgme.2020.01.006Test

4

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier

المؤلفون: Vincent J Carson, James E. Squires, Millie Young, Hendrik J. Vreman, Charles E. Ahlfors, George V. Mazareigos, Kevin A. Strauss, Lauren E. Bowser, Erik G. Puffenberger, Kyle Soltys, Patrick J. McKiernan, Michael D Fox, Karlla W. Brigatti

المصدر: Hepatology

مصطلحات موضوعية: Liver Cirrhosis, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Bilirubin, Crigler–Najjar syndrome, medicine.medical_treatment, Kaplan-Meier Estimate, Liver transplantation, Risk Assessment, Gastroenterology, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Fibrosis, Internal medicine, medicine, Humans, In patient, Glucuronosyltransferase, Serum Albumin, Crigler-Najjar Syndrome, Brain Diseases, Hepatology, business.industry, Homozygote, Infant, Newborn, Albumin, Phototherapy, medicine.disease, United States, Pathophysiology, Liver Transplantation, 030104 developmental biology, chemistry, Kernicterus, Female, 030211 gastroenterology & hepatology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ca51ff1aac3b5bfea9cd9177c09d35Test
https://doi.org/10.1002/hep.30959Test

5

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

المؤلفون: Millie Young, Kazuhiro Aoki, Donna L. Robinson, Christine Hendrickson, Lauren E. Bowser, Zineb Ammous, Adam D. Heaps, Olivia Wenger, Ethan M. Scott, Vincent J Carson, Kevin A. Strauss, Teresa Moser, Jonathan Salvin, James Deline, Steven Gottlieb, Erik G. Puffenberger, Thierry Morlet, Karlla W. Brigatti, Michael Tiemeyer

المصدر: Molecular Genetics and Metabolism. 126:475-488

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Adolescent, Hearing loss, Endocrinology, Diabetes and Metabolism, Physiology, 030105 genetics & heredity, Irritability, Biochemistry, Glycosphingolipids, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Seizures, Gangliosides, Genetics, medicine, Humans, Global developmental delay, Young adult, Child, Molecular Biology, Alleles, Retrospective Studies, Progressive microcephaly, Epilepsy, business.industry, Homozygote, Infant, medicine.disease, Sialyltransferases, United States, Natural history, Child, Preschool, Apgar Score, Female, Apgar score, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a0126caad7111bb8c8025d78c7760daTest
https://doi.org/10.1016/j.ymgme.2019.01.013Test

6

NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility

المؤلفون: Babus Jk, Everett Me, Romanowski A, Vincent J Carson, Lauren E. Bowser, Marianna Baybis, Claudia Gonzaga-Jauregui, Erik G. Puffenberger, Alexandros Poulopoulos, Cobb-Pitstick Km, Philip H. Iffland, Peter B. Crino, Allan E. Barnes

مصطلحات موضوعية: Wild type, Human brain, Biology, NPRL3, medicine.disease, Phenotype, Cell biology, Epilepsy, medicine.anatomical_structure, Lysosome, medicine, biology.protein, Mechanistic target of rapamycin, PI3K/AKT/mTOR pathway

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::56b1b6f628ec41df5c77d79618f9dbe7Test
https://doi.org/10.1101/2020.12.11.421214Test

7

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

المؤلفون: D. Holmes Morton, Jennifer Hailey, Christine Hendrickson, Erik G. Puffenberger, Katie B. Williams, Millie Young, Donna L. Robinson, Kevin A. Strauss, Freeman Miller, Karlla W. Brigatti, Laura Poskitt, Stephanie Chopko, Vincent J Carson, Keturah Beiler, Lauren E. Bowser, Cora M. Taylor, Barbara Haas-Givler

المصدر: Molecular genetics and metabolism. 131(3)

مصطلحات موضوعية: 0301 basic medicine, Medical food, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biochemistry, Enteral administration, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Carnitine, Genetics, medicine, Humans, Child, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Newborn screening, Glutaryl-CoA Dehydrogenase, business.industry, Brain Diseases, Metabolic, Incidence (epidemiology), Lysine, Infant, Newborn, Brain, Infant, Corpus Striatum, Diet, Glutaric acidemia, Child, Preschool, Cohort, Female, business, 030217 neurology & neurosurgery, Glutaric Acidemia Type 1, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f94860df6ebe7d939bb5bc4e9058ff1Test
https://pubmed.ncbi.nlm.nih.gov/33069577Test

8

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

المؤلفون: Millie Young, Dominika Korulczyk, Vincent J Carson, Kevin A. Strauss, KaLynn K. Loeven, Erik G. Puffenberger, Ashlin S. Rodrigues, Lauren E. Bowser, Karlla W. Brigatti

المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 9, p e0202104 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Heredity, Critical Care and Emergency Medicine, Pulmonology, Gene Dosage, lcsh:Medicine, Artificial Gene Amplification and Extension, SMN1, 030105 genetics & heredity, Polymerase Chain Reaction, Microsatellite Loci, law.invention, law, Genotype, Medicine and Health Sciences, lcsh:Science, Polymerase chain reaction, Genetics, Multidisciplinary, Ventilatory Support, Survival of Motor Neuron 2 Protein, Genetic Mapping, Genetic Diseases, Child, Preschool, Telecommunications, Microsatellite, Engineering and Technology, Chromosomes, Human, Pair 5, Female, Research Article, Biology, Research and Analysis Methods, Gene dosage, Muscular Atrophy, Spinal, 03 medical and health sciences, Autosomal Recessive Diseases, Respiratory Failure, Gene Types, medicine, Humans, Molecular Biology Techniques, Molecular Biology, Clinical Genetics, Haplotype, lcsh:R, Infant, Newborn, Chromosome, Biology and Life Sciences, Infant, Human Genetics, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, nervous system diseases, Haplotypes, Genetic Loci, Spinal Muscular Atrophy, lcsh:Q, Carrier Frequencies, Amish

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e808f2e5e70580a9386b321455288cfaTest
http://europepmc.org/articles/PMC6126807Test

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