CPEO POLG

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

POLG1 polyglutamine tract variants associated with Parkinson's disease.

Johanna,Eerola, Petri T,Luoma, Terhi,Peuralinna, Sonja,Scholz, Coro,Paisan-Ruiz, Anu,Suomalainen, Andrew B,Singleton, Pentti J,Tienari

Neuroscience letters · 2010-04-24

Variations of the CAG trinucleotide repeat in DNA polymerase γ (POLG1) is associated with Parkinson's disease in Sweden.

Anna,Anvret, Marie,Westerlund, Olof,Sydow, Thomas,Willows, Charlotta,Lind, Dagmar,Galter, Andrea Carmine,Belin

Neuroscience letters · 2010-09-06

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.

A,Rovio, V,Tiranti, A L,Bednarz, A,Suomalainen, J N,Spelbrink, N,Lecrenier, A,Melberg, M,Zeviani, J,Poulton, F,Foury, H T,Jacobs

European journal of human genetics : EJHG · 1999-01-01

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.

Novin,Balafkan, Charalampos,Tzoulis, Bernd,Müller, Kristoffer,Haugarvoll, Ole-Bjørn,Tysnes, Jan Petter,Larsen, Laurence A,Bindoff

Mitochondrion · 2012-08-29

Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.

Mohammad Mehdi,Heidari, Massoud,Houshmand, Saman,Hosseinkhani, Shahriar,Nafissi, Barbara,Scheiber-Mojdehkar, Mehri,Khatami

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2008-11-28

Molecular epidemiology of hereditary ataxia in Finland.

Joonas,Lipponen, Seppo,Helisalmi, Joose,Raivo, Ari,Siitonen, Hiroshi,Doi, Harri,Rusanen, Maria,Lehtilahti, Mervi,Ryytty, Markku,Laakso, Fumiaki,Tanaka, Kari,Majamaa, Laura,Kytövuori

BMC neurology · 2021-10-02

Genetic risk factors in Finnish patients with Parkinson's disease.

Susanna,Ylönen, Ari,Siitonen, Michael A,Nalls, Pauli,Ylikotila, Jaana,Autere, Johanna,Eerola-Rautio, Raphael,Gibbs, Mikko,Hiltunen, Pentti J,Tienari, Hilkka,Soininen, Andrew B,Singleton, Kari,Majamaa

Parkinsonism & related disorders · 2017-09-29

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Marie,Coutelier, Giulia,Coarelli, Marie-Lorraine,Monin, Juliette,Konop, Claire-Sophie,Davoine, Christelle,Tesson, Rémi,Valter, Mathieu,Anheim, Anthony,Behin, Giovanni,Castelnovo, Perrine,Charles, Albert,David, Claire,Ewenczyk, Mélanie,Fradin, Cyril,Goizet, Didier,Hannequin, Pierre,Labauge, Florence,Riant, Pierre,Sarda, Yves,Sznajer, François,Tison, Urielle,Ullmann, Lionel,Van Maldergem, Fanny,Mochel, Alexis,Brice, Giovanni,Stevanin, Alexandra,Durr

Brain : a journal of neurology · 2017-06-01

The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis.

Mehri,Khatami, Mohammad Mehdi,Heidari, Reza,Mansouri, Fatemeh,Mousavi

Iranian journal of child neurology · 2015-01-01

Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function.

Steven R,Bentley, Jianguo,Shan, Michael,Todorovic, Stephen A,Wood, George D,Mellick

Mitochondrion · 2014-01-31

Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility.

J,Poongothai

Journal of assisted reproduction and genetics · 2013-08-04

The POLG Gene Polymorphism in Iranian Varicocele-Associated Infertility Patients.

Mohammad Mehdi,Heidari, Mehri,Khatami, Ali Reza,Talebi

Iranian journal of basic medical sciences · 2012-03-01

POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.

Julia,Schicks, Matthis,Synofzik, Claudia,Schulte, Ludger,Schöls

Movement disorders : official journal of the Movement Disorder Society · 2010-11-15

Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.

Jan-Willem,Taanman, Anthony H V,Schapira

Neuroscience letters · 2004-12-08