SCA27B FGF14

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

David,Pellerin, Matt,Danzi, Mathilde,Renaud, Henry,Houlden, Matthis,Synofzik, Stephan,Zuchner, Bernard,Brais

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

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Widad,Abou Chaar, Anirudh N,Eranki, Hannah A,Stevens, Sonya L,Watson, Darice Y,Wong, Veronica S,Avila, Megan,Delfeld, Alexander J,Gary, Sanjukta,Tawde, Malia,Triebold, Marcello,Cherchi, Tao,Xie, Paul J,Lockhart, Melanie,Bahlo, David,Pellerin, Marie-Josée,Dicaire, Matt,Danzi, Stephan,Zuchner, Bernard C,Brais, Susan,Perlman, Margit,Burmeister, Henry,Paulson, Sharan,Srinivasan, Lawrence,Schut, Matthew,Bower, Khalaf,Bushara, Chuanhong,Liao, Vikram G,Shakkottai, John,Collins, H Brent,Clark, Soma,Das, Brent L,Fogel, Christopher M,Gomez

David,Pellerin, Carlo,Wilke, Andreas,Traschütz, Sara,Nagy, Riccardo,Currò, Marie-Josée,Dicaire, Hector,Garcia-Moreno, Mathieu,Anheim, Thomas,Wirth, Jennifer,Faber, Dagmar,Timmann, Christel,Depienne, Dan,Rujescu, José,Gazulla, Mary M,Reilly, Paola,Giunti, Bernard,Brais, Henry,Houlden, Ludger,Schöls, Michael,Strupp, Andrea,Cortese, Matthis,Synofzik

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Lars,Mohren, Friedrich,Erdlenbruch, Elsa,Leitão, Fabian,Kilpert, G Sebastian,Hönes, Sabine,Kaya, Christopher,Schröder, Andreas,Thieme, Marc,Sturm, Joohyun,Park, Agatha,Schlüter, Montserrat,Ruiz, Moisés,Morales de la Prida, Carlos,Casasnovas, Kerstin,Becker, Ulla,Roggenbuck, Sonali,Pechlivanis, Frank J,Kaiser, Matthis,Synofzik, Thomas,Wirth, Mathieu,Anheim, Tobias B,Haack, Paul J,Lockhart, Karl-Heinz,Jöckel, Aurora,Pujol, Stephan,Klebe, Dagmar,Timmann, Christel,Depienne

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

David,Pellerin, Giulia F,Del Gobbo, Madeline,Couse, Egor,Dolzhenko, Sathiji K,Nageshwaran, Warren A,Cheung, Isaac R L,Xu, Marie-Josée,Dicaire, Guinevere,Spurdens, Gabriel,Matos-Rodrigues, Igor,Stevanovski, Carolin K,Scriba, Adriana,Rebelo, Virginie,Roth, Marion,Wandzel, Céline,Bonnet, Catherine,Ashton, Aman,Agarwal, Cyril,Peter, Dan,Hasson, Nadejda M,Tsankova, Ken,Dewar, Phillipa J,Lamont, Nigel G,Laing, Mathilde,Renaud, Henry,Houlden, Matthis,Synofzik, Karen,Usdin, Andre,Nussenzweig, Marek,Napierala, Zhao,Chen, Hong,Jiang, Ira W,Deveson, Gianina,Ravenscroft, Schahram,Akbarian, Michael A,Eberle, Kym M,Boycott, Tomi,Pastinen, Bernard,Brais, Stephan,Zuchner, Matt C,Danzi

Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.

Toshiyuki,Kakumoto, Kenta,Orimo, Takashi,Matsukawa, Jun,Mitsui, Tomohiko,Ishihara, Osamu,Onodera, Yuta,Suzuki, Shinichi,Morishita, Tatsushi,Toda, Shoji,Tsuji

David,Pellerin, Matt C,Danzi, Carlo,Wilke, Mathilde,Renaud, Sarah,Fazal, Marie-Josée,Dicaire, Carolin K,Scriba, Catherine,Ashton, Christopher,Yanick, Danique,Beijer, Adriana,Rebelo, Clarissa,Rocca, Zane,Jaunmuktane, Joshua A,Sonnen, Roxanne,Larivière, David,Genís, Laura,Molina Porcel, Karine,Choquet, Rawan,Sakalla, Sylvie,Provost, Rebecca,Robertson, Xavier,Allard-Chamard, Martine,Tétreault, Sarah J,Reiling, Sara,Nagy, Vikas,Nishadham, Meera,Purushottam, Seena,Vengalil, Mainak,Bardhan, Atchayaram,Nalini, Zhongbo,Chen, Jean,Mathieu, Rami,Massie, Colin H,Chalk, Anne-Louise,Lafontaine, François,Evoy, Marie-France,Rioux, Jiannis,Ragoussis, Kym M,Boycott, Marie-Pierre,Dubé, Antoine,Duquette, Henry,Houlden, Gianina,Ravenscroft, Nigel G,Laing, Phillipa J,Lamont, Mario A,Saporta, Rebecca,Schüle, Ludger,Schöls, Roberta,La Piana, Matthis,Synofzik, Stephan,Zuchner, Bernard,Brais

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Haloom,Rafehi, Justin,Read, David J,Szmulewicz, Kayli C,Davies, Penny,Snell, Liam G,Fearnley, Liam,Scott, Mirja,Thomsen, Greta,Gillies, Kate,Pope, Mark F,Bennett, Jacob E,Munro, Kathie J,Ngo, Luke,Chen, Mathew J,Wallis, Ernest G,Butler, Kishore R,Kumar, Kathy Hc,Wu, Susan E,Tomlinson, Stephen,Tisch, Abhishek,Malhotra, Matthew,Lee-Archer, Egor,Dolzhenko, Michael A,Eberle, Leslie J,Roberts, Brent L,Fogel, Norbert,Brüggemann, Katja,Lohmann, Martin B,Delatycki, Melanie,Bahlo, Paul J,Lockhart

Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.

Julia A,Hisey, Chiara,Masnovo, Sergei M,Mirkin

No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients.

Clarisse,Delvallee, Nadège,Calmels, Thomas,Bogdan, Christine,Tranchant, Mathieu,Anheim, Thomas,Wirth

How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.

Raquel,Pinheiro-Barbosa, Cheick,Cissé, Paulo,Bastos, Clémence,Leung, Anne Pavy-le,Traon, Marc,Kermorgant, Fabrice,Bonneville, Mathilde,Renaud, Cecile,Bonnet, Marion,Wandzel, Virginie,Roth, Olivier,Rascol, Fabienne,Ory-Magne, Margherita,Fabbri

Assessment of the Clinical Interactions of GAA Repeat Expansions in

Brandon J,Gerhart, David,Pellerin, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Gabriel,Matos-Rodrigues, Andre,Nussenzweig, Karen,Usdin, Courtney C,Park, Jill S,Napierala, David R,Lynch, Marek,Napierala

Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.

Georgios,Koutsis, Chrisoula,Kartanou, Zoi,Kontogeorgiou, Chrysoula,Koniari, Alexandros,Mitrousias, David,Pellerin, Marie-Jose,Dicaire, Pablo,Iruzubieta, Matt C,Danzi, Konstantinos,Athanassopoulos, Nikolaos,Ragazos, Maria,Stamelou, Michail,Rentzos, Evangelos,Anagnostou, Stephan,Zuchner, Bernard,Brais, Henry,Houlden, Marios,Panas, Leonidas,Stefanis, Georgia,Karadima

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal.

Vítor,Mendes Ferreira, Marta,Magriço, Bruna,Meira, Raquel,Barbosa

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

David,Pellerin, Jean-Loup,Méreaux, Susana,Boluda, Matt C,Danzi, Marie-Josée,Dicaire, Claire-Sophie,Davoine, David,Genis, Guinevere,Spurdens, Catherine,Ashton, Jillian M,Hammond, Brandon J,Gerhart, Viorica,Chelban, Phuong U,Le, Maryam,Safisamghabadi, Christopher,Yanick, Hamin,Lee, Sathiji K,Nageshwaran, Gabriel,Matos-Rodrigues, Zane,Jaunmuktane, Kevin,Petrecca, Schahram,Akbarian, André,Nussenzweig, Karen,Usdin, Mathilde,Renaud, Céline,Bonnet, Gianina,Ravenscroft, Mario A,Saporta, Jill S,Napierala, Henry,Houlden, Ira W,Deveson, Marek,Napierala, Alexis,Brice, Laura,Molina Porcel, Danielle,Seilhean, Stephan,Zuchner, Alexandra,Durr, Bernard,Brais

Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.

Xu-Ying,Li, Hong,Lai, Xian,Li, Fanxi,Xu, Yang,Song, Zhanjun,Wang, Qibin,Li, Ruichai,Lin, Zhiheng,Xu, Chaodong,Wang

David,Pellerin, Jean-Loup,Méreaux, Susana,Boluda, Matt C,Danzi, Marie-Josée,Dicaire, Claire-Sophie,Davoine, David,Genis, Guinevere,Spurdens, Catherine,Ashton, Jillian M,Hammond, Brandon J,Gerhart, Viorica,Chelban, Phuong U,Le, Maryam,Safisamghabadi, Christopher,Yanick, Hamin,Lee, Sathiji K,Nageshwaran, Gabriel,Matos-Rodrigues, Zane,Jaunmuktane, Kevin,Petrecca, Schahram,Akbarian, André,Nussenzweig, Karen,Usdin, Mathilde,Renaud, Céline,Bonnet, Gianina,Ravenscroft, Mario A,Saporta, Jill S,Napierala, Henry,Houlden, Ira W,Deveson, Marek,Napierala, Alexis,Brice, Laura,Molina Porcel, Danielle,Seilhean, Stephan,Zuchner, Alexandra,Durr, Bernard,Brais