SCA27B FGF14

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

Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia

Shihan,Chen, Catherine,Ashton, Rawan,Sakalla, Guillemette,Clement, Sophie,Planel, Céline,Bonnet, Phillipa J.,Lamont, Karthik,Kulanthaivelu, Atchayaram,Nalini, Henry,Houlden, Antoine,Duquette, Marie-Josée,Dicaire, Pablo,Iruzubieta Agudo, Javier,Ruiz-Martinez, Enrique,Marco De Lucas, Rodrigo,Sutil Berjon, Jon,Infante Ceberio, Elisabetta,Indelicato, Sylvia M.,Boesch, Matthis,Synofzik, Benjamin,Bender, Matt C.,Danzi, Stephan,Zuchner, David,Pellerin, Bernard,Brais, Mathilde,Renaud, Roberta,La Piana

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

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Sara,Satolli, Salvatore,Rossi, Elisa,Vegezzi, David,Pellerin, Maria Laura,Manca, Melissa,Barghigiani, Carla,Battisti, Giusi,Bilancieri, Giorgia,Bruno, Elena,Capacci, Carlo,Casali, Roberto,Ceravolo, Sirio,Cocozza, Stefano,Cotti Piccinelli, Chiara,Criscuolo, Matt C,Danzi, Rosa,De Micco, Giuseppe,De Michele, Marie-Josée,Dicaire, Grazia Maria Igea,Falcone, Roberto,Fancellu, Yasmine,Ferchichi, Camilla,Ferrari, Alessandro,Filla, Nicola,Fini, Alessandra,Govoni, Filomena,Lo Vecchio, Alessandro,Malandrini, Andrea,Mignarri, Olimpia,Musumeci, Claudia,Nesti, Sabina,Pappatà, Maria Teresa,Pellecchia, Alessia,Perna, Antonio,Petrucci, Maria Grazia,Pomponi, Roberta,Ravenni, Ivana,Ricca, Alessandra,Rufa, Elisabetta,Tabolacci, Alessandra,Tessa, Alessandro,Tessitore, Stephan,Zuchner, Gabriella,Silvestri, Andrea,Cortese, Bernard,Brais, Filippo M,Santorelli

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/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

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

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Laura Ivete,Rudaks, Igor,Stevanovski, Dennis,Yeow, Andre L M,Reis, Sanjog R,Chintalaphani, Pak Leng,Cheong, Hasindu,Gamaarachchi, Lisa,Worgan, Kate,Ahmad, Michael,Hayes, Andrew,Hannaford, Samuel,Kim, Victor S C,Fung, Gabor M,Halmagyi, Andrew,Martin, David,Manser, Michel,Tchan, Karl,Ng, Marina L,Kennerson, Ira W,Deveson, Kishore Raj,Kumar

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

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

Joshua,Laß, Mirja,Thomsen, Max,Borsche, Theresa,Lüth, Julia C,Prietzsche, Susen,Schaake, Andona,Milovanović, Hannah,Macpherson, Emil K,Gustavsson, Paula,Saffie Awad, Nataša,Dragašević-Mišković, Björn-Hergen,Laabs, Inke R,König, Ana,Westenberger, Christopher E,Pearson, Norbert,Brüggemann, Christine,Klein, Joanne,Trinh

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.

Danique,Beijer, David,Mengel, Demet,Önder, Carlo,Wilke, Andreas,Traschütz, Jennifer,Faber, Dagmar,Timmann, Sylvia,Boesch, Stefan,Vielhaber, Thomas,Klopstock, Bart P,van de Warrenburg, Gabriella,Silvestri, Christoph,Kamm, Iselin Marie,Wedding, Zofia,Fleszar, Florian,Harmuth, Claudia,Dufke, Bernard,Brais, Olaf,Rieß, Ludger,Schöls, Tobias,Haack, Stephan,Züchner, David,Pellerin, Thomas,Klockgether, Matthis,Synofzik

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.

Viorica,Chelban, David,Pellerin, Nirosen,Vijiaratnam, Hamin,Lee, Yen Yee,Goh, Lauren,Brown, Sara,Sambin, Danielle,Seilhean, Stephane,Lehericy, Pablo,Iruzubieta, Rahema,Mohammad, Eleanor,Self, Annarita,Scardamaglia, Cameron,Lee, Miriama,Ostrozovicova, Marie-Josée,Dicaire, Christine,Girges, Emil K,Gustavsson, David,Murphy, Toby,Curless, Joshua,Laβ, Joanne,Trinh, Timothy,Rittman, James B,Rowe, Marios,Hadjivassiliou, Neil,Archibald, Matt C,Danzi, Catherine,Ashton, Virginie,Roth, Marion,Wandzel, Warren A,Cheung, Djordje O,Gveric, Bart,De Vil, Jordan,Follett, P Nigel,Leigh, Lukas,Beichert, Tomi,Pastinen, Céline,Bonnet, Mathilde,Renaud, Wassilios G,Meissner, Anne,Sieben, David,Crosiers, Patrick,Cras, Stephan,Zuchner, Jean-Christophe,Corvol, Matthew J,Farrer, Matthis,Synofzik, Bernard,Brais, Tom,Warner, Huw R,Morris, Zane,Jaunmuktane, Tom,Foltynie, Henry,Houlden

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Alexanne,Cuillerier, Giulia F,Del Gobbo, Layla,Mackay, Erika,Wall, Madeline,Couse, Laura M,McDonell, Mireille,Cloutier, Matt C,Danzi, Jodi,Warman-Chardon, Pierre R,Bourque, Oksana,Suchowersky, Alan,Mears, Luke,Seldenthuis, Wendy,Mears, Laura,Larrigan, Alexandre,White-Brown, Gerald,Pfeffer, Dennis E,Bulman, David,Dyment, Kym M,Boycott

ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.

Ludmila,Kaplun, Greice,Krautz-Peterson, Nir,Neerman, Yocheved,Schindler, Elinor,Dehan, Claudia S,Huettner, Brett K,Baumgartner, Christine,Stanley, Alexander,Kaplun

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.

David,Genís, Berta,Alemany, David,Pellerin, Bernard,Brais, Marie-Josée,Dicaire, Víctor,Volpini, Berta,Campos, Jordi,Corral, Josep,Gardenyes, Laura,de Jorge, Héctor,San Nicolás, Maria,Buxó, Joan,Martínez Sancho, Maria,Obon, Carles,Roig, Laia,Rodriguez-Revenga, María Isabel,Alvarez-Mora, Matt C,Danzi, Henry,Houlden, Stephan,Zuchner, Fabián,Márquez, Lluís,Ramió I Torrentà

High Prevalence of the Intronic GAA-

Ana,Ignjatijevic, Femke,Boorsma, Elles,Wierenga, Fleur,Vansenne, Corien C,Verschuuren-Bemelmans, Jeroen,de Vries, Dineke S,Verbeek, Helga,Westers, Cleo C,van Diemen

Involvement of the Superior Cerebellar Peduncles in GAA-

Shihan,Chen, Catherine,Ashton, Rawan,Sakalla, Guillemette,Clement, Sophie,Planel, Céline,Bonnet, Phillipa J,Lamont, Karthik,Kulanthaivelu, Atchayaram,Nalini, Henry,Houlden, Antoine,Duquette, Marie-Josée,Dicaire, Pablo,Iruzubieta Agudo, Javier,Ruiz-Martinez, Enrique,Marco De Lucas, Rodrigo,Sutil Berjon, Jon,Infante Ceberio, Elisabetta,Indelicato, Sylvia M,Boesch, Matthis,Synofzik, Benjamin,Bender, Matt C,Danzi, Stephan,Zuchner, David,Pellerin, Bernard,Brais, Mathilde,Renaud, Roberta,La Piana

Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.

Tsz Hang,Wong, Jamie,Manuputty, Tom,van Seeters, Erik-Jan,Kamsteeg, Bart,van de Warrenburg