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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

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

  • Authors : Zhao X; Department of Neurology, Beijing Jishuitan Hospital, Capital Medical University, Beijing, 102208, China.; Yu M

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis; Humans ; Cross-Sectional Studies

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 02; Vol. 19 (1), pp. 287. Date of Electronic Publication: 2024 Aug 02.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

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

  • Authors : Xie Y; Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.; Genetics Center of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.

Subjects: East Asian People*/East Asian People*/East Asian People*/genetics ; GTP-Binding Proteins*/GTP-Binding Proteins*/GTP-Binding Proteins*/deficiency ; GTP-Binding Proteins*/GTP-Binding Proteins*/GTP-Binding Proteins*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 24; Vol. 19 (1), pp. 488. Date of Electronic Publication: 2024 Dec 24.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

A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.

  • Authors : Santos Gonzalez F; Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, 207-221 Bouverie St., Parkville, Melbourne, VIC, 3010, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.

Subjects: Proteomics*/Proteomics*/Proteomics*/methods ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/economics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 29; Vol. 19 (1), pp. 443. Date of Electronic Publication: 2024 Nov 29.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

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

  • Authors : Wong TS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China.; Belaramani KM

Subjects: Asian People* ; Mitochondrial Diseases*; Humans

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 02; Vol. 18 (1), pp. 43. Date of Electronic Publication: 2023 Mar 02.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

UPR mt activation improves pathological alterations in cellular models of mitochondrial diseases.

  • Authors : Suárez-Rivero JM; Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Seville, Spain.; Pastor-Maldonado CJ

Subjects: Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolism ; Unfolded Protein Response*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 17; Vol. 17 (1), pp. 204. Date of Electronic Publication: 2022 May 17.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

The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data.

  • Authors : Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy.; Gregg E

Subjects: Quality of Life* ; Mitochondrial Diseases*; Child

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 11; Vol. 18 (1), pp. 320. Date of Electronic Publication: 2023 Oct 11.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

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

  • Authors : 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

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

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 02; Vol. 18 (1), pp. 307. Date of Electronic Publication: 2023 Oct 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Editorial & Opinion

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome.

  • Authors : Moreira JD; Evans Department of Medicine, Whitaker Cardiovascular Institute, Boston University Chobanian and Avedisian School of Medicine, 02118, Boston, MA, USA.; Smith KK

Subjects: Leigh Disease*/Leigh Disease*/Leigh Disease*/drug therapy ; Leigh Disease*/Leigh Disease*/Leigh Disease*/genetics ; Leigh Disease*/Leigh Disease*/Leigh Disease*/metabolism

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 16; Vol. 18 (1), pp. 355. Date of Electronic Publication: 2023 Nov 16.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

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

  • Authors : Ardissone A; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy. .; Bruno C

Subjects: Leigh Disease*/Leigh Disease*/Leigh Disease*/diagnosis ; Leigh Disease*/Leigh Disease*/Leigh Disease*/genetics ; Mitochondrial Diseases*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 09; Vol. 16 (1), pp. 413. Date of Electronic Publication: 2021 Oct 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-10 of  295 results for ""Mitochondrial Diseases""