SCA36 NOP56

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Raquel,Baviera-Muñoz, Lidón,Carretero-Vilarroig, Nuria,Muelas, Rafael,Sivera, Pablo,Sopena-Novales, Begoña,Martínez-Sanchis, Isabel,Sastre-Bataller, Marina,Campins-Romeu, Irene,Martínez-Torres, Jose Manuel,García-Verdugo, Jose M,Millán, Teresa,Jaijo, Elena,Aller, Luis,Bataller

Prevalence of spinocerebellar ataxia 36 in a US population.

Juliana M,Valera, Tatyana,Diaz, Lauren E,Petty, Beatriz,Quintáns, Zuleima,Yáñez, Eric,Boerwinkle, Donna,Muzny, Dmitry,Akhmedov, Rebecca,Berdeaux, Maria J,Sobrido, Richard,Gibbs, James R,Lupski, Daniel H,Geschwind, Susan,Perlman, Jennifer E,Below, Brent L,Fogel

Tanya,Lam, Clarissa,Rocca, Kristina,Ibanez, Anupriya,Dalmia, Samuel,Tallman, Marios,Hadjivassiliou, Anke,Hensiek, Andrea,Nemeth, Stefano,Facchini, Nicholas,Wood, Andrea,Cortese, Henry,Houlden, Arianna,Tucci

A Chinese SCA36 pedigree analysis of

Jinlong,Zou, Fengyu,Wang, Zhenping,Gong, Runrun,Wang, Shuai,Chen, Haohan,Zhang, Ruihua,Sun, Chenhao,Gao, Wei,Li, Junkui,Shang, Jiewen,Zhang

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Hatasu,Kobayashi, Koji,Abe, Tohru,Matsuura, Yoshio,Ikeda, Toshiaki,Hitomi, Yuji,Akechi, Toshiyuki,Habu, Wanyang,Liu, Hiroko,Okuda, Akio,Koizumi

Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.

Zhen,Hu, Qin-Qin,Yan, Jing-Jin,Wan, Yu,Fan, Jun,Liu

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hannes,Erdmann, Annalisa,Schaub, Morghan C,Lucas, Veronika,Scholz, Anna,Benet-Pages, Kerstin,Becker, Christine,Dineiger, Veronika,Mayer, Inga,van Buren, Eva,Breithausen, Karl,Akbari, Isabell,Cordts, Mayra,Sauer, Christine,Schneider, Rosanna,Krakowsky, Franziska,Schnabel, Konstanze,Dunker, Lena,Fabritius, Johannes,Gerb, Denis,Grabova, Ken,Möhwald, Marius,Näher, Karoline,Steinmetz, Franziska,Thiessen, Alexander,Jäck, Christiane,Schneider-Gold, Simone,Zittel, Christina,Petersen, Isolde,Schreyer, Larissa,Mämecke, Sibylle,Wilfling, Gilbert,Wunderlich, David,Brenner, Yorck,Hellenbroich, Kirsten,Muhle, Tessa,Huchtemann, Inga,Claus, Thomas,Klopstock, Michael,Strupp, Johannes,Levin, Günter,Höglinger, Doreen,Huppert, Sandra,Becker-Bense, Filipp,Filippopulos, Fabian,Kilpert, Elsa,Leitão, Sabine,Kaya, Christel,Depienne, Florian,Schöberl, Teresa,Neuhann, Elke,Holinski-Feder, Andreas,Zwergal, Angela,Abicht

Non-coding repeat analyses in patients with Parkinson's disease.

Makito,Hirano, Makoto,Samukawa, Satoko,Miyatake, Yuko,Yamagishi, Chiharu,Isono, Rino,Yoshikawa, Kazumasa,Saigoh, Atsushi,Terayama, Yuji,Higashimoto, Eriko,Koshimizu, Takeshi,Mizuguchi, Kanako,Fujii, Yoshiyuki,Mitsui, Naomichi,Matsumoto, Yoshitaka,Nagai

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

Dissecting the mechanism of NOP56 GGCCUG repeat-associated non-AUG translation using cell-free translation systems.

Mayuka,Hasumi, Hayato,Ito, Kodai,Machida, Tatsuya,Niwa, Tomoya,Taminato, Yoshitaka,Nagai, Hiroaki,Imataka, Hideki,Taguchi

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Clarissa,Rocca, David,Murphy, Chris,Clarkson, Matteo,Zanovello, Delia,Gagliardi, Queen Square,Genomics, Rauan,Kaiyrzhanov, Javeria,Alvi, Reza,Maroofian, Stephanie,Efthymiou, Tipu,Sultan, Jana,Vandrovcova, James,Polke, Robyn,Labrum, Henry,Houlden, Arianna,Tucci

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.

Xun,Zhou, Runcheng,He, Sheng,Zeng, Mingqiang,Li, Hongxu,Pan, Yuwen,Zhao, Zhenhua,Liu, Qian,Xu, Jifeng,Guo, Xinxiang,Yan, Jinchen,Li, Beisha,Tang, Qiying,Sun

Whole Exome Sequencing Indicating GGCCTG Hexanucleotide Repeat in Patients with Spinocerebellar Ataxia Type 36.

Ran,Chen, Chao,Zhou, Yun,Peng, Pengcheng,Huang, Yanyan,Yu, Min,Zhu, Meihong,Zhou, Daojun,Hong, Dandan,Tan

Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.

Takuya,Morikawa, Shiroh,Miura, Yusuke,Uchiyama, Shigeyoshi,Hiruki, Yinrui,Sun, Ryuta,Fujioka, Hiroki,Shibata