FAME3 MARCHF6

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

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

Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family.

E,Magnin, M,Vidailhet, C,Depienne, C,Saint-Martin, D,Bouteiller, E,LeGuern, E,Apartis, L,Rumbach, P,Labauge

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Rahel T,Florian, Florian,Kraft, Elsa,Leitão, Sabine,Kaya, Stephan,Klebe, Eloi,Magnin, Anne-Fleur,van Rootselaar, Julien,Buratti, Theresa,Kühnel, Christopher,Schröder, Sebastian,Giesselmann, Nikolai,Tschernoster, Janine,Altmueller, Anaide,Lamiral, Boris,Keren, Caroline,Nava, Delphine,Bouteiller, Sylvie,Forlani, Ludmila,Jornea, Regina,Kubica, Tao,Ye, Damien,Plassard, Bernard,Jost, Vincent,Meyer, Jean-François,Deleuze, Yannick,Delpu, Mario D M,Avarello, Lisanne S,Vijfhuizen, Gabrielle,Rudolf, Edouard,Hirsch, Thessa,Kroes, Philipp S,Reif, Felix,Rosenow, Christos,Ganos, Marie,Vidailhet, Lionel,Thivard, Alexandre,Mathieu, Thomas,Bourgeron, Ingo,Kurth, Haloom,Rafehi, Laura,Steenpass, Bernhard,Horsthemke, Eric,LeGuern, Karl Martin,Klein, Pierre,Labauge, Mark F,Bennett, Melanie,Bahlo, Jozef,Gecz, Mark A,Corbett, Marina A J,Tijssen, Arn M J M,van den Maagdenberg, Christel,Depienne

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Sarah,Fazal, Harriet,Dashnow, Maike F,Dohrn, Jacquelyn,Raposo, Laurel,Hiatt, Matt C,Danzi, Isaac R L,Xu, Camilo,Toro, David R,Adams, Karen,Usdin, Bruce,Hayward, Shilpa Nadimpalli,Kobren, Shamil R,Sunyaev, Rebecca C,Spillmann, Vandana,Shashi, Adriana,Rebelo, Guney,Bademci, Mustafa,Tekin, Aaron R,Quinlan, Stephan,Züchner

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.

Theresa,Kühnel, Elsa,Leitão, Renate,Lunzer, Fabian,Kilpert, Sabine,Kaya, Claudia,Del Gamba, Kelly,Astudillo, Steven,Frucht, Marion,Simonetta-Moreau, Eric,Bieth, Iris,Unterberger, Giulietta Maria,Riboldi, Christel,Depienne

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

Akane,Terasaki, Masayuki,Nakamura, Yuka,Urata, Hanae,Hiwatashi, Izumi,Yokoyama, Takeshi,Yasuda, Teiichi,Onuma, Kazumaru,Wada, Sunao,Kaneko, Rumiko,Kan, Shin-Ichi,Niwa, Ohiko,Hashimoto, Osamu,Komure, Yu-Ichi,Goto, Yuko,Yamagishi, Misa,Nakano, Yoshihiko,Furusawa, Akira,Sano