SCA4 ZFHX3

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

Zhongbo,Chen, Pilar,Alvarez Jerez, Claire,Anderson, Martin,Paucar, Jasmaine,Lee, Daniel,Nilsson, Hannah,Macpherson, Annarita,Scardamaglia, Kylie,Montgomery, John,Hardy, Andrew B,Singleton, Arianna,Tucci, Katherine D,Mathews, Ying-Hui,Fu, Martin,Engvall, José,Laffita-Mesa, Inger,Nennesmo, Anna,Wedell, Louis J,Ptáček, Cornelis,Blauwendraat, Emil K,Gustavsson, Per,Svenningsson, Mina,Ryten, Henry,Houlden

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.

Martin,Paucar, Daniel,Nilsson, Martin,Engvall, José,Laffita-Mesa, Cilla,Söderhäll, Mikael,Skorpil, Christer,Halldin, Patrik,Fazio, Kristina,Lagerstedt-Robinson, Göran,Solders, Maria,Angeria, Andrea,Varrone, Mårten,Risling, Hong,Jiao, Inger,Nennesmo, Anna,Wedell, Per,Svenningsson

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.

Joel,Wallenius, Efthymia,Kafantari, Emma,Jhaveri, Sorina,Gorcenco, Adam,Ameur, Christin,Karremo, Sigurd,Dobloug, Kristina,Karrman, Tom,de Koning, Andreea,Ilinca, Maria,Landqvist Waldö, Andreas,Arvidsson, Staffan,Persson, Elisabet,Englund, Hans,Ehrencrona, Andreas,Puschmann

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Zhongbo,Chen, Emil K,Gustavsson, Hannah,Macpherson, Claire,Anderson, Chris,Clarkson, Clarissa,Rocca, Eleanor,Self, Pilar,Alvarez Jerez, Annarita,Scardamaglia, David,Pellerin, Kylie,Montgomery, Jasmaine,Lee, Delia,Gagliardi, Huihui,Luo, John,Hardy, James,Polke, Andrew B,Singleton, Cornelis,Blauwendraat, Katherine D,Mathews, Arianna,Tucci, Ying-Hui,Fu, Henry,Houlden, Mina,Ryten, Louis J,Ptáček

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

,Handoko, Marlinda,Adham, Lisnawati,Rachmadi, Demak Lumban,Tobing, ,Asmarinah, ,Fadilah, Wei,Dai, Anne Wing Mui,Lee, Soehartati A,Gondhowiardjo

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

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

Paula,Saffie-Awad, Abraham,Moller, Kensuke,Daida, Pilar,Alvarez Jerez, Zhongbo,Chen, Zachary B,Anderson, Mariam,Isayan, Kimberly,Paquette, Sophia B,Gibson, Madison,Fulcher, Abigail,Miano-Burkhardt, Laksh,Malik, Breeana,Baker, Paige,Jarreau, Henry,Houlden, Mina,Ryten, Bida,Gu, Mark J P,Chaisson, Danny E,Miller, Pedro,Chaná-Cuevas, Cornelis,Blauwendraat, Andrew B,Singleton, Kimberley J,Billingsley

Identification of GGC Repeat Expansions in

Paula,Saffie-Awad, Abraham,Moller, Kensuke,Daida, Pilar Alvarez,Jerez, Zhongbo,Chen, Zachary B,Anderson, Mariam,Isayan, Kimberly,Paquette, Sophia B,Gibson, Madison,Fulcher, Abigail,Miano-Burkhardt, Laksh,Malik, Breeana,Baker, Paige,Jarreau, Henry,Houlden, Mina,Ryten, Bida,Gu, Mark Jp,Chaisson, Danny E,Miller, Pedro,Chaná-Cuevas, Cornelis,Blauwendraat, Andrew B,Singleton, Kimberley J,Billingsley

Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.

Andreas,Dalski, Martje G,Pauly, Henrike,Hanssen, Johann,Hagenah, Yorck,Hellenbroich, Christian,Schmidt, Jassemien,Strohschehn, Malte,Spielmann, Christine,Zühlke, Norbert,Brüggemann

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

Karla P,Figueroa, Caspar,Gross, Elena,Buena-Atienza, Sharan,Paul, Mandi,Gandelman, Naseebullah,Kakar, Marc,Sturm, Nicolas,Casadei, Jakob,Admard, Joohyun,Park, Christine,Zühlke, Yorck,Hellenbroich, Jelena,Pozojevic, Saranya,Balachandran, Kristian,Händler, Simone,Zittel, Dagmar,Timmann, Friedrich,Erdlenbruch, Laura,Herrmann, Thomas,Feindt, Martin,Zenker, Thomas,Klopstock, Claudia,Dufke, Daniel R,Scoles, Arnulf,Koeppen, Malte,Spielmann, Olaf,Riess, Stephan,Ossowski, Tobias B,Haack, Stefan M,Pulst

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.

Masaaki,Matsushima, Hiroaki,Yaguchi, Eriko,Koshimizu, Akihiko,Kudo, Shinichi,Shirai, Takeshi,Matsuoka, Shigehisa,Ura, Atsushi,Kawashima, Toshiyuki,Fukazawa, Satoko,Miyatake, Naomichi,Matsumoto, Ichiro,Yabe

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.

Luiz Eduardo,Novis, Shahryar,Alavi, David,Pellerin, Marcus Vinicius,Della Coleta, Salmo,Raskin, Mariana,Spitz, Andrea,Cortese, Henry,Houlden, Helio Afonso,Teive

The P-selectin gene polymorphism Val168Met: a novel risk marker for the occurrence of primary ventricular fibrillation during acute myocardial infarction.

Elif,Elmas, Peter,Bugert, Tatjana,Popp, Siegfried,Lang, Christel,Weiss, Michael,Behnes, Martin,Borggrefe, Thorsten,Kälsch