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Academic Journal

[Optineurin and mitochondrial dysfunction in neurodegeneration].

  • Authors : D'Urso B; CIMI-Paris, UPMC UMRS CR7 - Inserm U1135 - CNRS EMR8255, Faculté de médecine Sorbonne Université site Pitié-Salpêtrière, Paris, France - Sorbonne Université, Faculté des sciences et ingénierie, Paris, France.; Weil R

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Mitochondrial Diseases*; Humans

  • Source: Medecine sciences : M/S [Med Sci (Paris)] 2024 Feb; Vol. 40 (2), pp. 167-175. Date of Electronic Publication: 2024 Feb 27.Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381

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Academic Journal

[Mitochondrial diseases in adults: An update].

  • Authors : Allouche S; Laboratoire de biochimie, Centre Hospitalier et Universitaire, avenue côte de nacre, 14033 Caen cedex, France. Electronic address: .; Schaeffer S

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

  • Source: La Revue de medecine interne [Rev Med Interne] 2021 Aug; Vol. 42 (8), pp. 541-557. Date of Electronic Publication: 2021 Jan 15.Publisher: Elsevier Country of Publication: France NLM ID: 8101383 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-3122

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Academic Journal

[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].

  • Authors : Rucheton B; DMU BioGeM, AP-HP Sorbonne Université, Hôpitaux universitaires Pitié-Salpêtrière-Charles-Foix, Service de Biochimie métabolique, Paris, France.; Ader F

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

  • Source: Annales de biologie clinique [Ann Biol Clin (Paris)] 2021 Feb 01; Vol. 79 (1), pp. 28-40.Publisher: John Libbey Eurotext Country of Publication: France NLM ID: 2984690R Publication Model: Print Cited Medium: Internet ISSN: 1950-6112

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Academic Journal

[Leber hereditary optic neuropathy: clinical picture and initial workup data].

  • Authors : Clermont CV; Service Urgences-neuro Ophtalmologie Hôpital Fondation Adolphe de Rothschild, Paris; Centre National d'ophtalmologie des 15-20, Paris. Electronic address: .

Subjects: Optic Atrophy, Hereditary, Leber*/Optic Atrophy, Hereditary, Leber*/Optic Atrophy, Hereditary, Leber*/diagnosis ; Optic Atrophy, Hereditary, Leber*/Optic Atrophy, Hereditary, Leber*/Optic Atrophy, Hereditary, Leber*/genetics ; Optic Atrophy, Hereditary, Leber*/Optic Atrophy, Hereditary, Leber*/Optic Atrophy, Hereditary, Leber*/therapy

  • Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2022 Nov; Vol. 45 (8S1), pp. S3-S8.Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print Cited Medium: Internet ISSN: 1773-0597 (Electronic)

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Report

[OCT-Angiography analysis in a case of maternally inherited diabetes and deafness].

  • Authors : Zhioua Braham I; Service d'ophtalmologie de l'hôpital Charles-Nicolle de Tunis, boulevard du 9-avril 1938, 1006 Tunis, Tunisie.; Kaoual H

Subjects: Deafness*/Deafness*/Deafness*/diagnostic imaging ; Deafness*/Deafness*/Deafness*/genetics ; Diabetes Mellitus* Noninsulin-dependent diabetes mellitus with deafness

  • Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2021 Nov; Vol. 44 (9), pp. e543-e546. Date of Electronic Publication: 2021 Jul 03.Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597

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Academic Journal

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

  • Authors : Tran C; Centre des maladies moléculaires, Service de génétique médicale, CHUV, 1011 Lausanne.; Serratrice J

Subjects: Internal Medicine*/Internal Medicine*/Internal Medicine*/education ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/epidemiology

  • Source: Revue medicale suisse [Rev Med Suisse] 2017 Jan 18; Vol. 13 (546), pp. 159-163.Publisher: Médecine et Hygiène Country of Publication: Switzerland NLM ID: 101219148 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Cardiac manifestations of mitochondrial diseases].

  • Authors : Ritzenthaler T; AP-HP, CHU Raymond-Poincaré, réanimation médico-chirurgicale et pôle ventilation à domicile, 92380 Garches, France.; Luis D

Subjects: Heart Diseases/Heart Diseases/Heart Diseases/*etiology ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*complications; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/genetics

  • Source: Presse medicale (Paris, France : 1983) [Presse Med] 2015 May; Vol. 44 (5), pp. 492-7. Date of Electronic Publication: 2015 Apr 15.Publisher: Elsevier Masson Country of Publication: France NLM ID: 8302490 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Pathophysiology of human mitochondrial diseases].

  • Authors : Lombès A; Inserm U1016,CNRS UMR 8104, Institut Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France - Université Paris-Descartes-Paris 5, 75014 Paris, France.; Auré K

Subjects: Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*physiopathology; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/genetics ; Gene Expression Regulation

  • Source: Biologie aujourd'hui [Biol Aujourdhui] 2015; Vol. 209 (2), pp. 125-32. Date of Electronic Publication: 2015 Oct 29.Publisher: La Société de biologie Country of Publication: France NLM ID: 101544020 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

  • Authors : Sofou K; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden. Electronic address: .; Hedberg-Oldfors C

Subjects: Mutation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*deficiency ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*genetics

  • Source: Mitochondrion [Mitochondrion] 2019 Jul; Vol. 47, pp. 76-81. Date of Electronic Publication: 2019 May 04.Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 100968751 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Epilepsy and mitochondrial diseases: retrospective study on 53 epileptic children].

  • Authors : Caietta E; Service de neurologie pédiatrique et des maladies héréditaires du métabolisme, CHU La Timone, Assistance publique-Hôpitaux de Marseille, 264, rue Saint-Pierre, 13005 Marseille, France. ; Cano A

Subjects: Epilepsy/Epilepsy/Epilepsy/*complications ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*complications; Biopsy

  • Source: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2012 Aug; Vol. 19 (8), pp. 794-802. Date of Electronic Publication: 2012 Jul 11.Publisher: Elsevier Country of Publication: France NLM ID: 9421356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-664X

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  • 1-10 of  112 results for ""Mitochondrial Diseases""