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Academic Journal

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.

  • Authors : Zhao Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Zhao X

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/epidemiology ; Mutation*

  • Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 733-744. Date of Electronic Publication: 2024 Aug 09.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

  • Authors : Ambrose A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8-39 Medical Sciences Building, 8613 114 Street, Edmonton, AB, T6G 2H7, Canada.; Bahl S

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 12; Vol. 19 (1), pp. 424. Date of Electronic Publication: 2024 Nov 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.

  • Authors : Cicchinelli M; Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Primiano G

Subjects: Proteomics*/Proteomics*/Proteomics*/methods ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 05; Vol. 25 (19). Date of Electronic Publication: 2024 Oct 05.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

ISR pathway contribution to tissue specificity of mitochondrial diseases.

  • Authors : Vela-Sebastián A; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza 50009 and 50013, Spain; Instituto de Investigación Sanitaria (IIS) de Aragón, Zaragoza 50009, Spain.

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism; Animals

  • Source: Trends in endocrinology and metabolism: TEM [Trends Endocrinol Metab] 2024 Oct; Vol. 35 (10), pp. 851-853. Date of Electronic Publication: 2024 May 27.Publisher: Elsevier Science Pub. Co Country of Publication: United States NLM ID: 9001516 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

[Taurine for Mitochondrial Diseases].

  • Authors : Sunada Y; Kawasaki Medical School.

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/drug therapy ; Taurine*/Taurine*/Taurine*/administration & dosage; Animals

  • Source: Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2024 Oct; Vol. 76 (10), pp. 1127-1135.Publisher: igaku Shoin Country of Publication: Japan NLM ID: 101299709 Publication Model: Print Cited Medium: Print ISSN: 1881-6096 (Print)

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Academic Journal

Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.

  • Authors : Aguilar K; Institute for Research in Biomedicine (IRB Barcelona), Barcelona, Spain.; Jakubek P

Subjects: Oxidative Stress*/Oxidative Stress*/Oxidative Stress*/physiology ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/physiopathology ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism

  • Source: European journal of clinical investigation [Eur J Clin Invest] 2024 Jul; Vol. 54 (7), pp. e14217. Date of Electronic Publication: 2024 Apr 21.Publisher: Wiley Country of Publication: England NLM ID: 0245331 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2362

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Academic Journal

Fetal and obstetrics manifestations of mitochondrial diseases.

  • Authors : Adelizzi A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.; Giri A

Subjects: Mitochondrial Diseases* ; Fetus*; Humans

  • Source: Journal of translational medicine [J Transl Med] 2024 Sep 23; Vol. 22 (1), pp. 853. Date of Electronic Publication: 2024 Sep 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Academic Journal

Cascade testing in mitochondrial diseases: a cross-sectional retrospective study.

  • Authors : Haque S; Nepean Hospital, Derby Street, Kingswood, NSW, 2747, Australia. .; The Kolling Institute, Royal North Shore Hospital, Reserve Road, St Leonards, NSW, 2065, Australia. .

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: BMC neurology [BMC Neurol] 2024 Sep 13; Vol. 24 (1), pp. 343. Date of Electronic Publication: 2024 Sep 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Academic Journal

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.

  • Authors : Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.; Papadopoulou MT

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/complications ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/therapy ; Seizures*/Seizures*/Seizures*/therapy

  • Source: European journal of neurology [Eur J Neurol] 2024 Jul; Vol. 31 (7), pp. e16275. Date of Electronic Publication: 2024 Apr 04.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331

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Academic Journal

Dysarthria and dysphagia in patients with mitochondrial diseases.

  • Authors : Kuin REM; Radboud University Nijmegen, MA Speech-Language Pathology, Nijmegen, the Netherlands.; Groothuis JT

Subjects: Deglutition Disorders*/Deglutition Disorders*/Deglutition Disorders*/etiology ; Deglutition Disorders*/Deglutition Disorders*/Deglutition Disorders*/physiopathology ; Dysarthria*/Dysarthria*/Dysarthria*/etiology

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul; Vol. 142 (3), pp. 108510. Date of Electronic Publication: 2024 Jun 01.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  60,990 results for ""Mitochondrial Diseases""