Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Mitochondrial disease"" wg kryterium: Wszystkie pola

  Lista filtrów
Wyrównaj
Wyświetlanie 1-20 z 33830
Tytuł:
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Autorzy:
Grigalionienė K; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškių Str. 2, Vilnius, LT-08661, Lithuania. .
Burnytė B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškių Str. 2, Vilnius, LT-08661, Lithuania.
Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškių Str. 2, Vilnius, LT-08661, Lithuania.
Utkus A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariškių Str. 2, Vilnius, LT-08661, Lithuania.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 02; Vol. 18 (1), pp. 307. Date of Electronic Publication: 2023 Oct 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mitochondrial Diseases*/diagnosis
Mitochondrial Diseases*/genetics
Humans ; Mutation ; DNA, Mitochondrial/genetics ; Mitochondria/genetics ; Genotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Autorzy:
Olkhova EA; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Bradshaw C; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Blain A; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Alvim D; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Turnbull DM; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne, NE4 5PL, UK.
LeBeau FEN; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Ng YS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne, NE4 5PL, UK.
Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. .; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. .; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK. .; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne, NE4 5PL, UK. .
Lax NZ; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Pokaż więcej
Źródło:
Communications biology [Commun Biol] 2023 Oct 23; Vol. 6 (1), pp. 1078. Date of Electronic Publication: 2023 Oct 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Parvalbumins*/metabolism
Mitochondrial Diseases*/genetics
Mitochondrial Diseases*/metabolism
Mice ; Animals ; Humans ; Neurons/metabolism ; Interneurons/metabolism ; Mitochondria
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data.
Autorzy:
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.
Gregg E; York Health Economics Consortium, York, UK.
Bartlett C; York Health Economics Consortium, York, UK.
Senthilnathan V; PTC Therapeutics, South Plainfield, NJ, USA.
Arber M; York Health Economics Consortium, York, UK.
Watkins D; York Health Economics Consortium, York, UK.
Graziadio S; York Health Economics Consortium, York, UK.
Tomazos I; PTC Therapeutics, South Plainfield, NJ, USA. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 11; Vol. 18 (1), pp. 320. Date of Electronic Publication: 2023 Oct 11.
Typ publikacji:
Systematic Review; Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Quality of Life*
Mitochondrial Diseases*
Child ; Adult ; Humans ; Delivery of Health Care
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Inflammatory and interferon gene expression signatures in patients with mitochondrial disease.
Autorzy:
Warren EB; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Gordon-Lipkin EM; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Cheung F; Center for Human Immunology, National Institutes of Health, Bethesda, MD, USA.
Chen J; Center for Human Immunology, National Institutes of Health, Bethesda, MD, USA.
Mukherjee A; Center for Human Immunology, National Institutes of Health, Bethesda, MD, USA.
Apps R; Center for Human Immunology, National Institutes of Health, Bethesda, MD, USA.
Tsang JS; Center for Human Immunology, National Institutes of Health, Bethesda, MD, USA.; Department of Immunobiology, School of Medicine, Yale University, New Haven, CT, USA.
Jetmore J; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Schlein ML; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Kruk S; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lei Y; Department of Microbial Pathogenesis & Immunology, Texas A&M University, Bryan, TX, USA.
West AP; Department of Microbial Pathogenesis & Immunology, Texas A&M University, Bryan, TX, USA. .
McGuire PJ; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. .
Pokaż więcej
Źródło:
Journal of translational medicine [J Transl Med] 2023 May 19; Vol. 21 (1), pp. 331. Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms:
Interferons*/genetics
Mitochondrial Diseases*
Animals ; Mice ; Transcriptome/genetics ; Inflammation/genetics ; Inflammation/pathology ; Antiviral Agents
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.
Autorzy:
O'Connor K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Centre for Neuromuscular Disease, University of Ottawa Brain and Mind Research Institute, Ottawa, ON K1H 8M5, Canada.
Spendiff S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.
Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L6, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, 79104 Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Catalonia, Spain.
Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB3 0FD, UK.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 09; Vol. 24 (10). Date of Electronic Publication: 2023 May 09.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Myasthenic Syndromes, Congenital*/genetics
Mitochondrial Diseases*
Organic Anion Transporters*/genetics
Humans ; Neuromuscular Junction/genetics ; Synapses ; Mutation ; Mitochondrial Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of peripheral vascular function measures and circulating biomarkers of mitochondrial function in patients with mitochondrial disease.
Autorzy:
van Kraaij SJW; Centre for Human Drug Research, Leiden, The Netherlands.; Leiden University Medical Centre, Leiden, The Netherlands.
Pereira DR; Centre for Human Drug Research, Leiden, The Netherlands.
Smal B; Centre for Human Drug Research, Leiden, The Netherlands.
Summo L; OMEICOS Therapeutics GmbH, Berlin, Germany.
Konkel A; OMEICOS Therapeutics GmbH, Berlin, Germany.
Lossie J; OMEICOS Therapeutics GmbH, Berlin, Germany.
Busjahn A; HealthTwiSt GmbH, Berlin, Germany.
Grammatopoulos TN; BioEnergetics LLC, Boston, Massachusetts, USA.
Klaassen E; Centre for Human Drug Research, Leiden, The Netherlands.
Fischer R; OMEICOS Therapeutics GmbH, Berlin, Germany.
Schunck WH; OMEICOS Therapeutics GmbH, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
Gal P; Centre for Human Drug Research, Leiden, The Netherlands.; Leiden University Medical Centre, Leiden, The Netherlands.
Moerland M; Centre for Human Drug Research, Leiden, The Netherlands.; Leiden University Medical Centre, Leiden, The Netherlands.
Pokaż więcej
Źródło:
Clinical and translational science [Clin Transl Sci] 2023 Jul; Vol. 16 (7), pp. 1258-1271. Date of Electronic Publication: 2023 May 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Leukocytes, Mononuclear*/metabolism
Mitochondrial Diseases*/diagnosis
Mitochondrial Diseases*/metabolism
Humans ; Case-Control Studies ; Cross-Sectional Studies ; Mitochondria ; Biomarkers
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The evolution of the mitochondrial disease diagnostic odyssey.
Autorzy:
Thompson JLP; Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, USA. .
Karaa A; Division of Genetics, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
Pham H; Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, USA.
Yeske P; United Mitochondrial Disease Foundation, Pittsburgh, PA, USA.
Krischer J; University of South Florida Health Informatics Institute, Tampa, FL, USA.
Xiao Y; Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, USA.
Long Y; Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, USA.
Kramer A; Department of Population and Family Health, Mailman School of Public Health, Columbia University, New York, USA.
Dimmock D; Creyon Bio, San Diego, CA, USA.
Holbert A; Tampa General Hospital, Tampa, FL, USA.
Gorski C; United Mitochondrial Disease Foundation, Pittsburgh, PA, USA.
Engelstad KM; Department of Neurology, Columbia University Irving Medical Center, New York, USA.
Buchsbaum R; Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, USA.
Rosales XQ; Department of Neurology, Columbia University Irving Medical Center, New York, USA.
Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York, USA.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 22; Vol. 18 (1), pp. 157. Date of Electronic Publication: 2023 Jun 22.
Typ publikacji:
Journal Article
MeSH Terms:
Mitochondrial Diseases*/diagnosis
Mitochondrial Diseases*/genetics
Humans ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
Autorzy:
Olkhova EA; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Smith LA; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Bradshaw C; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
Erskine D; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
Ng YS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 02; Vol. 24 (11). Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cerebellar Ataxia*/pathology
Mitochondrial Diseases*/genetics
Mitochondrial Diseases*/pathology
Mice ; Animals ; Humans ; Ataxia/genetics ; Purkinje Cells/pathology ; Seizures/pathology ; Phenotype ; Disease Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive profiling of the human viral exposome in households containing an at-risk child with mitochondrial disease during the 2020-2021 COVID-19 pandemic.
Autorzy:
Gordon-Lipkin EM; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Marcum CS; Data Science Policy, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Kruk S; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Thompson E; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Kelly SEM; Trans-NIH Shared Resource on Biomedical Engineering and Physical Science, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, Maryland, USA.
Kalish H; Trans-NIH Shared Resource on Biomedical Engineering and Physical Science, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, Maryland, USA.
Bellusci L; Division of Viral Products, Center for Biologics Evaluation and Research, Food and Drug Administration (FDA), Silver Spring, Maryland, USA.
Khurana S; Division of Viral Products, Center for Biologics Evaluation and Research, Food and Drug Administration (FDA), Silver Spring, Maryland, USA.
Sadtler K; Section on Immunoengineering, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, Maryland, USA.
McGuire PJ; Metabolism, Infection and Immunity Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Pokaż więcej
Źródło:
Clinical and translational medicine [Clin Transl Med] 2022 Nov; Vol. 12 (11), pp. e1100.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
MeSH Terms:
COVID-19*/epidemiology
Exposome*
Virus Diseases*
Mitochondrial Diseases*
United States ; Child ; Humans ; SARS-CoV-2 ; Pandemics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life
Autorzy:
DiVito, DonnaAff1, Aff2
Wellik, Amanda
Burfield, JessicaAff1, Aff2
Peterson, James
Flickinger, Jean
Tindall, AlyssaAff2, Aff3
Albanowski, Kimberly
Vishnubhatt, Shailee
MacMullen, Laura
Martin, Isaac
Muraresku, Colleen
McCormick, Elizabeth
George-Sankoh, Ibrahim
McCormack, ShanaAff4, Aff5
Goldstein, AmyAff2, Aff5
Ganetzky, RebeccaAff2, Aff5
Yudkoff, Marc
Xiao, RuiAff5, Aff6
Falk, Marni J.Aff2, Aff5
R. Mascarenhas, MariaAff3, Aff5
Zolkipli-Cunningham, ZarazuelaAff2, Aff5, IDs13311023014189_cor21
Pokaż więcej
Źródło:
Neurotherapeutics: The Journal of the American Society for Experimental Neurotherapeutics. 20(6):1723-1745
Czasopismo naukowe
Szczegóły
Tytuł:
Maternal spindle transfer for mitochondrial disease: lessons to be learnt before extending the method to other conditions?
Autorzy:
Siristatidis C; Assisted Reproduction Unit, Second Department of Obstetrics and Gynecology, Medical School, National and Kapodistrian University of Athens, 'Aretaieio' University Hospital, Athens, Greece.
Mantzavinos T; Scientific director of 'Institute of Life' IVF Center, Iaso Maternity Hospital, Athens, Greece.
Vlahos N; Assisted Reproduction Unit, Second Department of Obstetrics and Gynecology, Medical School, National and Kapodistrian University of Athens, 'Aretaieio' University Hospital, Athens, Greece.
Pokaż więcej
Źródło:
Human fertility (Cambridge, England) [Hum Fertil (Camb)] 2022 Dec; Vol. 25 (5), pp. 838-847. Date of Electronic Publication: 2021 May 17.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mitochondrial Diseases*/genetics
Mitochondrial Diseases*/prevention & control
Infertility*/therapy
Humans ; Reproductive Techniques, Assisted ; Mitochondria ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
Autorzy:
Borsche, MaxAff1, Aff2
Dulovic-Mahlow, Marija
Baumann, Hauke
Tunc, SinemAff1, Aff2, Aff3
Lüth, Theresa
Schaake, Susen
Özcakir, Selin
Westenberger, Ana
Münchau, Alexander
Knappe, Evelyn
Trinh, Joanne
Brüggemann, NorbertAff1, Aff2, IDs1231102301557x_cor12
Lohmann, Katja
Pokaż więcej
Źródło:
The Cerebellum. 23(2):479-488
Czasopismo naukowe
Szczegóły
Tytuł:
Cognitive functioning and mental health in children with a primary mitochondrial disease.
Autorzy:
van de Loo KFE; Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Center for Neuropsychological Expertise, Denkkracht, Nijmegen, The Netherlands.
Custers JAE; Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. .
de Boer L; Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
van Lieshout M; Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Centre of Excellence for Neuropsychiatry, Vincent Van Gogh Institute for Psychiatry, Venray, The Netherlands.
de Vries MC; Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Janssen MCH; Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Radboud Center for Mitochondrial Medicine, Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Verhaak CM; Radboud Center for Mitochondrial Medicine, Department of Medical Psychology, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 01; Vol. 17 (1), pp. 368. Date of Electronic Publication: 2022 Oct 01.
Typ publikacji:
Journal Article
MeSH Terms:
Mitochondrial Diseases*
Quality of Life*
Child ; Cognition ; Humans ; Intelligence ; Mental Health
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.
Autorzy:
Hanaford A; Center for Integrative Brain Research, Seattle Children's Research Institute, 1900 9th Ave., JMB-925, Seattle, WA, 98101, USA.
Johnson SC; Center for Integrative Brain Research, Seattle Children's Research Institute, 1900 9th Ave., JMB-925, Seattle, WA, 98101, USA. .; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA. .; Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, WA, USA. .; Department of Neurology, University of Washington, Seattle, WA, USA. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 02; Vol. 17 (1), pp. 335. Date of Electronic Publication: 2022 Sep 02.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Leigh Disease*/genetics
Leigh Disease*/metabolism
Mitochondrial Diseases*/genetics
Nervous System Diseases*/metabolism
Humans ; Immune System/metabolism ; Mitochondria/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial disease registries worldwide: A scoping review.
Autorzy:
Abdul-Fatah A; Department of Health Sciences, Carleton University, Ottawa, Ontario, Canada.
Esmaeilisaraji L; Department of Health Sciences, Carleton University, Ottawa, Ontario, Canada.
Juan CM; Department of Health Sciences, Carleton University, Ottawa, Ontario, Canada.
Holcik M; Department of Health Sciences, Carleton University, Ottawa, Ontario, Canada.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2022 Oct 27; Vol. 17 (10), pp. e0276883. Date of Electronic Publication: 2022 Oct 27 (Print Publication: 2022).
Typ publikacji:
Systematic Review; Review; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Research Personnel*
Mitochondrial Diseases*/epidemiology
Mitochondrial Diseases*/therapy
Humans ; Canada ; Registries ; Europe
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Autorzy:
Yoshimi A; Department of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. .
Ishikawa K; Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, University Medical Center, University of Freiburg, Freiburg, Germany.
Niemeyer C; Department of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Grünert SC; Faculty of Life and Environmental Sciences and Graduate School of Life and Environmental Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 17; Vol. 17 (1), pp. 379. Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Anemia*/complications
Anemia*/genetics
Kearns-Sayre Syndrome*/complications
Kearns-Sayre Syndrome*/genetics
Mitochondrial Diseases*/genetics
Child, Preschool ; Congenital Bone Marrow Failure Syndromes ; DNA, Mitochondrial/genetics ; Humans ; Infant ; Lipid Metabolism, Inborn Errors ; Muscular Diseases
SCR Disease Name:
VLCAD deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A conceptual disease model for quality of life in mitochondrial disease.
Autorzy:
van de Loo KFE; Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. .
van Zeijl NT; Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Custers JAE; Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. .
Janssen MCH; Department of Internal Medicine, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Verhaak CM; Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 15; Vol. 17 (1), pp. 263. Date of Electronic Publication: 2022 Jul 15.
Typ publikacji:
Journal Article
MeSH Terms:
Mitochondrial Diseases*
Quality of Life*/psychology
Adult ; Depression/psychology ; Fatigue ; Humans ; Outcome Assessment, Health Care
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.
Autorzy:
Ratnayake C; Department of Renal Medicine, Launceston General Hospital, Tasmanian Health Service, Australia.
Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.; School of Medicine, University of Tasmania, Hobart, Australia.; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.
Raj R; Department of Renal Medicine, Launceston General Hospital, Tasmanian Health Service, Australia.; School of Medicine, University of Tasmania, Hobart, Australia.
Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetic Services, Melbourne, Australia.
Pokaż więcej
Źródło:
Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2022 Jul; Vol. 27 (7), pp. 640-641. Date of Electronic Publication: 2022 Feb 06.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Kidney Diseases*/diagnosis
Kidney Diseases*/genetics
Mitochondrial Diseases*/diagnosis
Mitochondrial Diseases*/genetics
Adult ; Humans
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 33830

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies