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Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French studyAKNIN-SEIFER, I. E; TOURAINE, R. L; LEJEUNE, H et al.Human reproduction (Oxford. Print). 2005, Vol 20, Num 3, pp 736-740, issn 0268-1161, 5 p.Article

Thalamus lesions in chronic and acute seizure disordersTSCHAMPA, Henriette J; GRESCHUS, Susanne; SASSEN, Robert et al.Neuroradiology (Berlin. Print). 2011, Vol 53, Num 4, pp 245-254, issn 0028-3940, 10 p.Article

Dysfonctions mitochondriales à l'origine de neuropathies périphériques = Peripheral neuropathies due to mitochondrial disordersFUNALOT, B.Revue neurologique (Paris). 2009, Vol 165, Num 12, pp 1118-1121, issn 0035-3787, 4 p.Conference Paper

Do carriers of POLG mutation W748S have disease manifestations?RANTAMÄKI, M; LUOMA, P; VILLA, J. J et al.Clinical genetics. 2007, Vol 72, Num 6, pp 532-537, issn 0009-9163, 6 p.Article

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assayNAIMI, Mourad; BANNWARTH, Sylvie; JONVEAUX, Philippe et al.European journal of human genetics. 2006, Vol 14, Num 8, pp 917-922, issn 1018-4813, 6 p.Article

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutationsTZOULIS, Charalampos; TUONG TRAN, Gia; SCHWARZLMÜLLER, Thomas et al.Brain. 2013, Vol 136, pp 2393-2404, issn 0006-8950, 12 p., 8Article

Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase γZSURKA, Gabor; BARON, Miriam; STEWART, Joanna D et al.Journal of neuropathology and experimental neurology. 2008, Vol 67, Num 9, pp 857-866, issn 0022-3069, 10 p.Article

Rapidly Progressive Neurological Deterioration in a Child with Alpers Syndrome Exhibiting a Previously Unremarkable Brain MRIBRUNETTI-PIERRI, N; SELBY, K; O'SULLIVAN, M et al.Neuropediatrics. 2008, Vol 39, Num 3, pp 179-183, issn 0174-304X, 5 p.Article

The spectrum of clinical disease caused by the A467T and W748S POLG mutations : a study of 26 casesTZOULIS, Charalampos; ENGELSEN, Bernt A; TELSTAD, Wenche et al.Brain. 2006, Vol 129, pp 1685-1692, issn 0006-8950, 8 p., 7Article

Analysis of the trinucleotide CAG repeat from the DNA polymerase γ gene (POLG) in patients with Parkinson's diseaseTAANMAN, Jan-Willem; SCHAPIRA, Anthony H. V.Neuroscience letters. 2005, Vol 376, Num 1, pp 56-59, issn 0304-3940, 4 p.Article

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxiaPALIN, Eino J. H; HAKONEN, Anna H; KORPELA, Mari et al.Journal of the neurological sciences. 2012, Vol 315, Num 1-2, pp 160-163, issn 0022-510X, 4 p.Article

Major depression in adolescent children consecutively diagnosed with mitochondrial disorderKOENE, S; KOZICZ, T. L; RODENBURG, R. J. T et al.Journal of affective disorders. 2009, Vol 114, Num 1-3, pp 327-332, issn 0165-0327, 6 p.Article

Apraxia of Lid Opening Mimicking Ptosis in Compound Heterozygosity for A467T and W748S POLG1 MutationsPAUS, Sebastian; ZSURKA, Gabor; BARON, Miriam et al.Movement disorders. 2008, Vol 23, Num 9, pp 1286-1288, issn 0885-3185, 3 p.Article

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European foundersHAKONEN, Anna H; DAVIDZON, Guido; SALEMI, Renato et al.European journal of human genetics. 2007, Vol 15, Num 7, pp 779-783, issn 1018-4813, 5 p.Article

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γAFERRARI, Gianfrancesco; LAMANTEA, Eleonora; DONATI, Alice et al.Brain. 2005, Vol 128, pp 723-731, issn 0006-8950, 9 p., 4Article

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegiaHORGA, Alejandro; PITCEATHLY, Robert D. S; HANNA, Michael G et al.Brain. 2014, Vol 137, pp 3200-3212, issn 0006-8950, 13 p., 12Article

Evaluation of the Child With Suspected Mitochondrial Liver DiseaseMOLLESTON, Jean P; SOKOL, Ronald J; KARNSAKUL, Wikrom et al.Journal of pediatric gastroenterology and nutrition. 2013, Vol 57, Num 3, pp 269-276, issn 0277-2116, 8 p.Article

Germline variants of base excision repair genes and breast cancer: a polymorphism in DNA polymerase gamma modifies gene expression and breast cancer riskPOPANDA, Odilia; SEIBOLD, Petra; NIKOLOV, Ivaylo et al.International journal of cancer (Print). 2013, Vol 132, Num 1, pp 55-62, issn 0020-7136, 8 p.Article

PHARMACOLOGIC EFFECTS ON MITOCHONDRIAL FUNCTIONCOHEN, Bruce H.Developmental disabilities research reviews. 2010, Vol 16, Num 2, pp 189-199, issn 1940-5510, 11 p.Article

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLGI mutationsTZOULIS, C; PAPINGJI, M; FISKESTRAND, T et al.Acta neurologica Scandinavica. Supplementum. 2009, Vol 120, Num 189, pp 38-41, issn 0065-1427, 4 p.Conference Paper

Molecular diagnosis of Alpers syndromeNGUYEN, Khue V; SHARIEF, Farida S; CHAN, Sherine S. L et al.Journal of hepatology. 2006, Vol 45, Num 1, pp 108-116, issn 0168-8278, 9 p.Article

POLYMERASE GAMMA DISEASE THROUGH THE AGESSANETO, Russell P; NAVIAUX, Robert K.Developmental disabilities research reviews. 2010, Vol 16, Num 2, pp 163-174, issn 1940-5510, 12 p.Article

Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancerBLOMBERG JENSEN, M; LEFFERS, H; PETERSEN, J. H et al.Annals of oncology. 2008, Vol 19, Num 11, pp 1910-1914, issn 0923-7534, 5 p.Article

Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertilityJENSEN, Martin; LEFFERS, Henrik; PETERSEN, Jørgen H et al.Human reproduction (Oxford. Print). 2004, Vol 19, Num 1, pp 65-70, issn 0268-1161, 6 p.Article

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaPAGNAMENTA, Alistair T; TAANMAN, Jan-Willem; RAHMAN, Shamima et al.Human reproduction (Oxford. Print). 2006, Vol 21, Num 10, pp 2467-2473, issn 0268-1161, 7 p.Article

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