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

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

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

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

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

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

Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:

Jose Miguel,Laffita-Mesa, Martin,Paucar, Per,Svenningsson

Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.

Arianna,Manini, Alberto,Brusati, Maurizio,Grassano, Giulia,Scacciatella, Silvia,Peverelli, Jacopo,Spagliardi, Viviana,Pensato, Alberto,Doretti, Rosario,Vasta, Umberto,Manera, Antonio,Canosa, Maura,Brunetti, Davide,Gentilini, Stefano,Messina, Federico,Verde, Cristina,Moglia, Claudia,Morelli, Eleonora,Dalla Bella, Pamela J,Keagle, John E,Landers, Cinzia,Gellera, Giuseppe,Lauria Pinter, Adriano,Chiò, Antonia,Ratti, Andrea,Calvo, Vincenzo,Silani, Nicola,Ticozzi

Diagnosis of hereditary ataxias: a real-world single center experience.

Adriana,Meli, Vincenzo,Montano, Giovanni,Palermo, Antonella,Fogli, Anna,Rocchi, Annalisa Lo,Gerfo, Rossella,Maltomini, Ludovica,Cori, Antonio,Siniscalchi, Clara,Bernardini, Giulia,Cecchi, Gabriele,Siciliano, Roberto,Ceravolo, Maria Adelaide,Caligo, Michelangelo,Mancuso, Piervito,Lopriore

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

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

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

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

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

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

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