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Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1713 - 1730
Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic variants of ataxia‐telangiectasia mutated (ATM). This disease is... 
checkpoint | phenotype | mutation | ataxia‐telangiectasia | ataxia‐telangiectasia mutated (ATM) | splice | Pathogenicity | Phosphorylation | Phenotypes | Radiosensitivity | Transcription | Genotoxicity | Lymphoblastoid cell lines | Classification | Ataxia | Lymphocytes T | Localization | Hereditary diseases
Journal Article
Movement Disorders, ISSN 0885-3185, 01/2016, Volume 31, Issue 1, pp. 62 - 69
Journal Article
Journal Article
by Renaud, Mathilde and Tranchant, Christine and Martin, Juan Vicente Torres and Mochel, Fanny and Synofzik, Matthis and van de Warrenburg, Bart and Pandolfo, Massimo and Koenig, Michel and Kolb, Stefan A and Anheim, Mathieu and Alonso, Isabel and Azzedine, Hamid and Barbot, Clara and Bereau, Matthieu and Berkovic, Sam and Bernard, Geneviéve and Bindoff, Laurence A and Bompaire, Flavie and Bonneau, Dominique and Bonneau, Patrizia and Boycott, Kym M and Bras, Jose and Brais, Bernard and Brigatti, Karlla W and Cameron, Jillian and Chamova, Teodora and Choquet, Karine and Delague, Valérie and Denizeau, Philippe and Dotti, Maria Teresa and El‐Euch, Ghada and Elmalik, Salah A and Federico, Antonio and Fiskerstrand, Torunn and Gagnon, Cynthia and Guerreiro, Rita and Guissart, Claire and Hassin‐Baer, Sharon and Heimdal, Ketil Riddervold and Héron, Bénédicte and Isohanni, Pirjo and Kalaydijeva, Luba and Kawarai, Toshitaka and Koht, Jeanette Aimee and Lai, Szu‐Chia and Piana, Roberta La and Lecocq, Claire and Linnankivi, Tarja and Lönnqvist, Tuula and Lu, Chin‐Song and Maas, Roderick and Mahlaoui, Nizar and Mallaret, Martial and Marelli, Cecilia and Mariotti, Caterina and Mathieu, Jean and Méneret, Aurélie and Mignarri, Andrea and Monin, Marie Lorraine and Montaut, Solveig and Nanetti, Lorenzo and Nadjar, Yann and Poujois, Aurélia and Salih, Mustafa A and Sousa, Sergio and Stanier, Philip and Stoppa‐Lyonnet, Dominique and Strauss, Kevin and Tallaksen, Chantal and Tarnopolsky, Mark and Tinant, Nadége and Tournev, Ivailo and Topaloglu, Haluk and Varhaug, Kristin Nielsen and Woimant, France and Wolf, Nicole I and Yahalom, Gilad and Yoon, Grace and Young, Millie and RADIAL Working Grp and RADIAL Working Group and the RADIAL Working Group
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 892 - 899
Objective Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular... 
CEREBELLAR-ATAXIA | PHENOTYPE | DISORDERS | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | FEATURES | Cerebellum | Sensitivity analysis | Cerebellar ataxia | Scoring | Patients | Genetic screening | Literature reviews | Sensitivity | Ranking | Algorithms | Magnetic resonance imaging | Predictions | Fingers & toes | Biomarkers | Ataxia | Electromyography | Bioindicators | Differential diagnosis | Diagnosis | EMG
Journal Article
Neuron, ISSN 0896-6273, 01/2017, Volume 93, Issue 2, pp. 331 - 347
Journal Article
JAMA Neurology, ISSN 2168-6149, 02/2015, Volume 72, Issue 2, pp. 239 - 240
Journal Article
JAMA Neurology, ISSN 2168-6149, 02/2015, Volume 72, Issue 2, p. 239
Journal Article
Journal Article