المؤلفون: Philips T; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Mironova YA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Jouroukhin Y; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Chew J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Vidensky S; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Farah MH; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Pletnikov MV; Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences SUNY, University at Buffalo, Buffalo, NY 14203, USA., Bergles DE; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Kavli Neuroscience Discovery Institute, Johns Hopkins University, Baltimore, MD 21205, USA., Morrison BM; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: bmorris7@jhmi.edu., Rothstein JD; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: jrothstein@jhmi.edu.

المصدر: Cell reports [Cell Rep] 2021 Jan 12; Vol. 34 (2), pp. 108610.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Axons/*metabolism , Monocarboxylic Acid Transporters/*metabolism , Myelin Sheath/*metabolism , Nerve Degeneration/*metabolism , Oligodendroglia/*metabolism , Symporters/*metabolism, Animals ; Female ; Male ; Mice ; Mice, Transgenic ; Monocarboxylic Acid Transporters/deficiency ; Myelin Sheath/pathology ; Oligodendroglia/pathology ; Symporters/deficiency

المؤلفون: Xin W; Intramural Research Program, National Institute on Drug Abuse, NIH, Baltimore, MD 21224, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: wen.xin@ucsf.edu., Mironova YA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Shen H; Intramural Research Program, National Institute on Drug Abuse, NIH, Baltimore, MD 21224, USA., Marino RAM; Intramural Research Program, National Institute on Drug Abuse, NIH, Baltimore, MD 21224, USA., Waisman A; Institute for Molecular Medicine, University Medical Center of the Johannes Gutenberg University, 55128 Mainz, Germany., Lamers WH; Academic Medical Center, Tytgat Institute for Liver and Intestinal Research, 1105 BK Amsterdam, the Netherlands., Bergles DE; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Bonci A; Intramural Research Program, National Institute on Drug Abuse, NIH, Baltimore, MD 21224, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neuroscience, Georgetown University Medical Center, School of Medicine, Washington, DC 20007, USA; Department of Psychiatry, University of Maryland, School of Medicine, Baltimore, MD 21205, USA. Electronic address: antonello.bonci@nih.gov.

المصدر: Cell reports [Cell Rep] 2019 May 21; Vol. 27 (8), pp. 2262-2271.e5.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Brain/*physiopathology , Glutamate-Ammonia Ligase/*metabolism , Glutamine/*metabolism , Oligodendroglia/*metabolism, Animals ; Signal Transduction

المؤلفون: Mironova YA; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA.; Cellular and Molecular Biology Graduate Program, University of Michigan Medical School, Ann Arbor, MI, USA., Lin JP; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA., Kalinski AL; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA., Huffman LD; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA.; Interdepartmental Neuroscience Graduate Program, University of Michigan Medical School, Ann Arbor, MI, USA., Lenk GM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA., Havton LA; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Meisler MH; Interdepartmental Neuroscience Graduate Program, University of Michigan Medical School, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, USA., Giger RJ; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, USA.; Cellular and Molecular Biology Graduate Program, University of Michigan Medical School, Ann Arbor, MI, USA.; Interdepartmental Neuroscience Graduate Program, University of Michigan Medical School, Ann Arbor, MI, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2018 Jul 15; Vol. 27 (14), pp. 2443-2453.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease/*genetics , Flavoproteins/*genetics , Nervous System/*metabolism , Phosphoinositide Phosphatases/*genetics , Phosphoric Monoester Hydrolases/*genetics, Animals ; Axons/pathology ; Central Nervous System/physiopathology ; Charcot-Marie-Tooth Disease/physiopathology ; Cleidocranial Dysplasia/genetics ; Cleidocranial Dysplasia/physiopathology ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/physiopathology ; Humans ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/physiopathology ; Mice ; Mice, Transgenic ; Micrognathism/genetics ; Micrognathism/physiopathology ; Mutation ; Nervous System/pathology ; Neurons/pathology ; Peripheral Nervous System/physiopathology ; Phosphatidylinositol 3-Kinases/genetics ; Phosphatidylinositol Phosphates/genetics ; Phosphatidylinositol Phosphates/metabolism ; Polymicrogyria/genetics ; Polymicrogyria/physiopathology ; Sciatic Nerve/physiopathology

SCR Disease Name: Yunis Varon syndrome

المؤلفون: Ivanova SA, Alifirova VM, Pozhidaev IV, Freidin MB, Zhukova IA, Osmanova DZ, Zhukova NG, Mironova YA, Tiguntsev VV, Fedorenko OY, Bokhan NA, Wilffert B, Loonen AJM

المصدر: Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques [J Pharm Pharm Sci] 2018; Vol. 21 (1), pp. 340-346.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S. A Country of Publication: Canada NLM ID: 9807281 Publication Model: Print Cited Medium: Internet ISSN: 1482-1826 (Electronic) Linking ISSN: 14821826 NLM ISO Abbreviation: J Pharm Pharm Sci Subsets: MEDLINE

مواضيع طبية MeSH: Antiparkinson Agents/*adverse effects , Catechol O-Methyltransferase/*genetics , Dyskinesia, Drug-Induced/*genetics , Levodopa/*adverse effects , Parkinson Disease/*drug therapy , Polymorphism, Single Nucleotide/*genetics, Adult ; Aged ; Aged, 80 and over ; Antiparkinson Agents/therapeutic use ; Dyskinesia, Drug-Induced/enzymology ; Dyskinesia, Drug-Induced/prevention & control ; Female ; Humans ; Levodopa/therapeutic use ; Male ; Middle Aged ; Parkinson Disease/enzymology ; Parkinson Disease/genetics ; Regression Analysis

المؤلفون: Lin JP; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, MI, United States., Mironova YA; Cellular and Molecular Biology Graduate Program, University of Michigan Medical School, Ann Arbor, MI, United States., Shrager P; Department of Neuroscience, University of Rochester Medical Center, Rochester, NY, United States., Giger RJ; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, MI, United States.; Cellular and Molecular Biology Graduate Program, University of Michigan Medical School, Ann Arbor, MI, United States.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, United States.; Interdepartmental Neuroscience Graduate Program, University of Michigan Medical School, Ann Arbor, MI, United States.

المصدر: ELife [Elife] 2017 Dec 18; Vol. 6. Date of Electronic Publication: 2017 Dec 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Homeostasis* , Organelle Biogenesis*, Cholesterol/*metabolism , Myelin Sheath/*metabolism , Oligodendrocyte Precursor Cells/*physiology , Peroxisomes/*metabolism , Receptors, LDL/*metabolism , Tumor Suppressor Proteins/*metabolism, Animals ; Cell Differentiation ; Cells, Cultured ; Low Density Lipoprotein Receptor-Related Protein-1 ; Mice

المؤلفون: Mironova YA; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, United States.; Cellular and Molecular Biology Graduate Program, University of Michigan School of Medicine, Ann Arbor, United States., Lenk GM; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, United States., Lin JP; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, United States., Lee SJ; Department of Biological Sciences, University of South Carolina, Columbia, United States., Twiss JL; Department of Biological Sciences, University of South Carolina, Columbia, United States., Vaccari I; Human Inherited Neuropathies Unit, INSPE-Institute for Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy., Bolino A; Human Inherited Neuropathies Unit, INSPE-Institute for Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy., Havton LA; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, United States., Min SH; Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, United States., Abrams CS; Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, United States., Shrager P; Department of Neurobiology and Anatomy, University of Rochester Medical Center, Rochester, United States., Meisler MH; Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, United States.; Department of Neurology, University of Michigan School of Medicine, Ann Arbor, United States., Giger RJ; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, United States.; Department of Neurology, University of Michigan School of Medicine, Ann Arbor, United States.

المصدر: ELife [Elife] 2016 Mar 23; Vol. 5. Date of Electronic Publication: 2016 Mar 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Cell Differentiation/*drug effects , Myelin Sheath/*metabolism , Neurons/*metabolism , Oligodendroglia/*drug effects , Oligodendroglia/*physiology , Phosphatidylinositol Phosphates/*biosynthesis, Animals ; Gene Deletion ; Mice

المؤلفون: Lenk GM; Department of Human Genetics, glenk@umich.edu., Frei CM; Department of Human Genetics., Miller AC; Department of Human Genetics., Wallen RC; Department of Human Genetics., Mironova YA; Department of Cell and Developmental Biology and., Giger RJ; Department of Cell and Developmental Biology and Department of Neurology, University of Michigan, 4909 Buhl, Ann Arbor, MI 48109-5618, USA., Meisler MH; Department of Human Genetics, Department of Neurology, University of Michigan, 4909 Buhl, Ann Arbor, MI 48109-5618, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2016 Jan 15; Vol. 25 (2), pp. 340-7. Date of Electronic Publication: 2015 Nov 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Flavoproteins/*genetics , Hydrocephalus/*genetics , Neurons/*metabolism, Animals ; Catalytic Domain/genetics ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/metabolism ; Cleidocranial Dysplasia/genetics ; Cleidocranial Dysplasia/metabolism ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/metabolism ; Flavoproteins/metabolism ; Hydrocephalus/metabolism ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/metabolism ; Mice ; Mice, Transgenic ; Micrognathism/genetics ; Micrognathism/metabolism ; Phosphatidylinositol Phosphates/metabolism ; Phosphoinositide Phosphatases ; Phosphoric Monoester Hydrolases/genetics ; Phosphoric Monoester Hydrolases/metabolism ; Polymicrogyria/genetics ; Polymicrogyria/metabolism ; Schwann Cells/metabolism

SCR Disease Name: Yunis Varon syndrome

المؤلفون: Vaccari I; Division of Neuroscience, INSPE-Institute of Experimental Neurology., Carbone A; Division of Neuroscience, INSPE-Institute of Experimental Neurology., Previtali SC; Division of Neuroscience, INSPE-Institute of Experimental Neurology Department of Neurology and., Mironova YA; Department of Cell and Developmental Biology and., Alberizzi V; Division of Neuroscience, INSPE-Institute of Experimental Neurology., Noseda R; Division of Neuroscience, INSPE-Institute of Experimental Neurology., Rivellini C; Division of Neuroscience, INSPE-Institute of Experimental Neurology., Bianchi F; Division of Neuroscience, INSPE-Institute of Experimental Neurology Department of Neurology and., Del Carro U; Division of Neuroscience, INSPE-Institute of Experimental Neurology Department of Neurology and., D'Antonio M; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy., Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA and., Wrabetz L; Hunter James Kelly Research Institute, State University of New York, Buffalo, NY 14203, USA., Giger RJ; Department of Cell and Developmental Biology and., Meisler MH; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA and., Bolino A; Division of Neuroscience, INSPE-Institute of Experimental Neurology bolino.alessandra@hsr.it.

المصدر: Human molecular genetics [Hum Mol Genet] 2015 Jan 15; Vol. 24 (2), pp. 383-96. Date of Electronic Publication: 2014 Sep 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease/*metabolism , Flavoproteins/*metabolism , Motor Neurons/*metabolism , Schwann Cells/*metabolism, Animals ; Charcot-Marie-Tooth Disease/genetics ; Endosomes/metabolism ; Flavoproteins/genetics ; Gene Silencing ; Humans ; Mice ; Mice, Inbred C57BL ; Myelin Sheath/metabolism ; Phosphatidylinositols/metabolism ; Phosphoinositide Phosphatases ; Protein Transport

SCR Disease Name: Charcot-Marie-Tooth Disease, Type 4j

المؤلفون: Mironova YA; Department of Cell and Developmental Biology, University of Michigan School of Medicine, 3065 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA., Giger RJ

المصدر: Trends in neurosciences [Trends Neurosci] 2013 Jun; Vol. 36 (6), pp. 363-73. Date of Electronic Publication: 2013 May 02.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Elsevier Applied Science Publishing Country of Publication: England NLM ID: 7808616 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-108X (Electronic) Linking ISSN: 01662236 NLM ISO Abbreviation: Trends Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Nerve Regeneration/*physiology , Nerve Tissue Proteins/*physiology , Neuronal Plasticity/*physiology , Synapses/*physiology, Amnesia/physiopathology ; Animals ; Astrocytes/physiology ; Brain/growth & development ; Brain/physiology ; Brain Injuries/physiopathology ; Brain Injuries/therapy ; Chondroitin Sulfate Proteoglycans/physiology ; Cytoskeleton/physiology ; Cytoskeleton/ultrastructure ; Dendrites/physiology ; Dendrites/ultrastructure ; Dominance, Ocular/physiology ; GPI-Linked Proteins/physiology ; Glycosaminoglycans/physiology ; Humans ; Mental Disorders/physiopathology ; Mice ; Models, Neurological ; Myelin Proteins/physiology ; Nogo Proteins ; Nogo Receptor 1 ; Receptors, Cell Surface/physiology ; Signal Transduction/physiology ; Spinal Cord Injuries/physiopathology ; Spinal Cord Injuries/therapy

المؤلفون: Harris NG; Department of Neurosurgery, David Geffen School of Medicine at UCLA, Box 957039, Los Angeles, CA 90095-7039, USA. ngharris@mednet.ucla.edu, Mironova YA, Chen SF, Richards HK, Pickard JD

المصدر: Journal of neurotrauma [J Neurotrauma] 2012 May 01; Vol. 29 (7), pp. 1469-82. Date of Electronic Publication: 2012 Mar 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mary Ann Liebert Country of Publication: United States NLM ID: 8811626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-9042 (Electronic) Linking ISSN: 08977151 NLM ISO Abbreviation: J Neurotrauma Subsets: MEDLINE

مواضيع طبية MeSH: Brain Injuries/*drug therapy , Brain Injuries/*metabolism , Cerebrovascular Circulation/*drug effects , Diffuse Axonal Injury/*drug therapy , Energy Metabolism/*drug effects, Acetazolamide/pharmacology ; Animals ; Brain Injuries/diagnostic imaging ; Cerebrovascular Circulation/physiology ; Diffuse Axonal Injury/diagnostic imaging ; Diffuse Axonal Injury/metabolism ; Energy Metabolism/physiology ; Male ; Radionuclide Imaging ; Rats ; Rats, Sprague-Dawley