FAME8 RAI1

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

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Patra,Yeetong, Mohamed E,Dembélé, Monnat,Pongpanich, Lassana,Cissé, Chalurmpon,Srichomthong, Alassane B,Maiga, Kékouta,Dembélé, Adjima,Assawapitaksakul, Salia,Bamba, Abdoulaye,Yalcouyé, Salimata,Diarra, Samuel Ephrata,Mefoung, Supphakorn,Rakwongkhachon, Oumou,Traoré, Siraprapa,Tongkobpetch, Kenneth H,Fischbeck, William A,Gahl, Cheick O,Guinto, Vorasuk,Shotelersuk, Guida,Landouré

Early detection of hematopoietic engraftment after bone marrow and peripheral blood stem cell transplantation by highly fluorescent reticulocyte counts.

H T,Greinix, W,Linkesch, F,Keil, P,Kalhs, I,Schwarzinger, B,Schneider, C,Oesterreicher, S,Brugger, S,Kapiotis, K,Lechner

Telmisartan is neuroprotective in a hiPSC-derived spinal microtissue model for C9orf72 ALS via inhibition of neuroinflammation.

Berkiye,Sonustun, Björn F,Vahsen, Mario,Ledesma-Terrón, Zhuoning,Li, Laura,Tuffery, Nan,Xu, Elizabeth L,Calder, Johannes,Jungverdorben, Leslie,Weber, Aaron,Zhong, David G,Miguez, Mara,Monetti, Ting,Zhou, Elisa,Giacomelli, Lorenz,Studer

Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.

Varun,Suroliya, Bharathram,Uppili, Manish,Kumar, Vineet,Jha, Achal K,Srivastava, Mohammed,Faruq

Expansion of testing, isolation, quarantine, e-health and telemonitoring strategies in socioeconomically vulnerable neighbourhoods at primary healthcare in the fight against COVID-19 in Brazil: a study protocol of a multisite testing intervention using a mixed method approach.

Laio,Magno, Thais Regis Aranha,Rossi, Débora,Castanheira, Thiago S,Torres, Carina Carvalho Dos,Santos, Fabiane,Soares, Valdiléa G,Veloso, Marcos,Benedetti, Ines,Dourado

Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China.

Yu,Li, Zhen,Liu, Xiaorong,Hou, Zhao,Chen, Lu,Shen, Kun,Xia, Beisha,Tang, Hong,Jiang, Junling,Wang

Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

Pauline,Dontaine, Elisa,Kottos, Martine,Dassonville, Ovidiu,Balasel, Véronique,Catros, Julie,Soblet, Pascale,Perlot, Catheline,Vilain

Expansion and Conservation of Biosynthetic Gene Clusters in Pathogenic

Paula M,Moolhuijzen, Mariano Jordi,Muria-Gonzalez, Robert,Syme, Catherine,Rawlinson, Pao Theen,See, Caroline S,Moffat, Simon R,Ellwood

Kondo-Induced Giant Isotropic Negative Thermal Expansion.

D G,Mazzone, M,Dzero, Am M,Abeykoon, H,Yamaoka, H,Ishii, N,Hiraoka, J-P,Rueff, J M,Ablett, K,Imura, H S,Suzuki, J N,Hancock, I,Jarrige

P,Wang, Z,Chen, Y,Peng, L,Cao, X,Li, C,Wang, H,Yang, H,Peng, Y,Shi, X,Zhou, T,Li, L,Feng, C,Wu, R,Qiu, K,Xia, B,Tang, H,Jiang

Bo,Wang, Xiaofei,Liang, Mark L,Gleason, Rong,Zhang, Guangyu,Sun