Search Results - "Fratter C"

M13 - Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics.

Authors: Fratter, C. Dombi, E. Carver, J. et al.

Source: Neuromuscular Disorders. Mar2017 Supplement 1, Vol. 27, pS21-S21. 1p.

P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle

Authors: Fratter, C. Raman, P. Alston, C. et al.

Source: Neuromuscular Disorders. Mar2011 Supplement 1, Vol. 21, pS23-S23. 1p.

G.P.3.04 Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients

Authors: Fratter, C. Gorman, G. Stewart, J.D. et al.

Source: Neuromuscular Disorders. Sep2009, Vol. 19 Issue 8/9, p562-562. 1p.

M21 - Defects in mitochondrial DNA (mtDNA) replication cause mtDNA depletion, increased mtDNA turnover and increased mitophagy.

Authors: Lodge, T. Liao, C. Fratter, C. et al.

Source: Neuromuscular Disorders. Mar2017 Supplement 1, Vol. 27, pS23-S24. 1p.

G.P.191: What factors are associated with the prevalence of sub-sarcolemmal mitochondrial aggregates (SSMA) in paediatric skeletal muscle? Examining the use and limitations of SSMA as a diagnostic muscle biopsy marker.

Authors: Cortese, A. Ellis, M. Fratter, C. et al.

Source: Neuromuscular Disorders. Oct2014, Vol. 24 Issue 9/10, p867-867. 1p.

P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease

Authors: Piceathly, R.D.S. Smith, C. Fratter, C. et al.

Source: Neuromuscular Disorders. Mar2012 Supplement, Vol. 22 Issue s1, pS23-S23. 1p.

P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease

Authors: Uusimaa, J. Jungbluth, H. Fratter, C. et al.

Source: Neuromuscular Disorders. Mar2011 Supplement 1, Vol. 21, pS22-S22. 1p.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

Authors: Poulton, J. Hirano, M. Spinazzola, A. et al.

Source: BBA: Molecular Basis of Disease. Dec2009, Vol. 1792 Issue 12, p1109-1112. 4p.

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Authors: Bradley, K. J. Cavaco, B. M. Bowl, M. R. et al.

Source: Clinical Endocrinology. Mar2006, Vol. 64 Issue 3, p299-306. 8p. 3 Diagrams, 2 Charts.

Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation.

Authors: PASMATZI, E. MONASTIRLI, A. CHRONI, E. et al.

Source: QJM: An International Journal of Medicine. 2015, Vol. 108 Issue 6, p503-505. 3p.

NEW INSIGHTS INTO CELLULAR FUNCTIONS: O.9Dysfunctional mitophagy: a potential therapeutic target in inclusion body myositis.

Authors: Brady, S. Wang, E. Carver, J. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS88-S88. 1p.

G.O.3 - Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations.

Authors: Liao, C. Diot, A. Ashley, N. et al.

Source: Neuromuscular Disorders. Oct2015 Supplement 2, Vol. 25, pS185-S186. 1p.

O02 Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations

Authors: Liao, C. Ashley, N. Morten, K. et al.

Source: Neuromuscular Disorders. Mar2012 Supplement, Vol. 22 Issue s1, pS3-S3. 1p.

P53 Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

Authors: Pitceathly, R.D.S. Fassone, E. Taanman, J.-W. et al.

Source: Neuromuscular Disorders. Mar2011 Supplement 1, Vol. 21, pS21-S21. 1p.

Mutations in the mitochondrial DNA gamma polymerase (POLG) may cause Alpers syndrome, mitochondrial DNA depletion, and non-syndromic status epilepticus: implications for valproate therapy.

Authors: Poulton J Jayawant S O'Rourke A et al.

Source: Developmental Medicine & Child Neurology. Jan2007 Supplement 108, Vol. 49, p10-10. 1p.

Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation.

Authors: Ahmed A Montague SJ Vyas H et al.

Source: Haematologica [Haematologica] 2026 Feb 26. Date of Electronic Publication: 2026 Feb 26.

Publication Type: Journal Article

Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Authors: Blickhäuser B Stenton SL Neuhofer CM et al.

Source: Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 1967-1974.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.

Authors: Dombi E Marinaki T Spingardi P et al.

Source: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2024 Apr 02; Vol. 12, pp. 1260496. Date of Electronic Publication: 2024 Apr 02 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.

Authors: Vara R Pinon M Fratter C et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 634-648. Date of Electronic Publication: 2023 May 28.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

The diagnostic utility of genetic testing in inherited thrombocytopenia: regional multicenter tertiary experience.

Authors: Hassan E Fratter C Lester W et al.

Source: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2025 Apr 24; Vol. 9 (3), pp. 102869. Date of Electronic Publication: 2025 Apr 24 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101703775 Publication Model: eCollection Cited Medium: Internet ISSN: 2475-0379 (Electronic) Linking ISSN: 24750379 NLM ISO Abbreviation: Res Pract Thromb Haemost Subsets: PubMed not MEDLINE