Results 151 to 160 of about 4,949 (187)

Multisample motif discovery and visualization for tandem repeats. [PDF]

Genome Res
Zhang Y, Hulsman M, Salazar A, Tesi N, Knoop L, van der Lee S, Wijesekera S, Krizova J, Kamsteeg EJ, Holstege H.   +9 more
europepmc   +1 more source

21542. NO SOLO CANVAS: DOS FENOTIPOS INUSUALES ASOCIADOS A EXPANSIONES BIALÉLICAS EN RFC1

Neurology Perspectives
L. Gangas Barranquero, M. Rivera Sánchez, M. Polanco Fernández, A. Valera Barrero, J. Infante Ceberio, A. Pelayo Negro, F. Gutiérrez Martín, S. Jorge Roldán, L. Manrique Arregui   +8 more
doaj   +1 more source

AAGGG repeat expansions trigger <i>RFC1</i>-independent synaptic dysregulation in human CANVAS neurons. [PDF]

Sci Adv
Maltby CJ, Krans A, Grudzien SJ, Palacios Y, Muiños J, Suárez A, Asher M, Willey S, Van Deynze K, Mumm C, Boyle AP, Cortese A, Ndayisaba A, Khurana V, Barmada SJ, Dijkstra AA, Todd PK.   +16 more
europepmc   +1 more source

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia. [PDF]

Genome Res
Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, Kumar KR, Kumble S, Lee-Archer M, Malhotra A, Paine M, Poon M, Pope K, Reardon K, Ring S, Ronan A, Silsby M, Smyth R, Stutterd C, Wallis M, Waterston J, Wellings T, West K, Wools C, Wu KHC, Szmulewicz DJ, Delatycki MB, Bahlo M, Lockhart PJ.   +41 more
europepmc   +1 more source

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion. [PDF]

Neurol Genet
Frachet S, Chazelas P, Magy L, Cintas P, Brouquières D, Girardie P, Espagno L, Melloni B, Guilleminault L, Lia AS.   +9 more
europepmc   +1 more source

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia. [PDF]

Brain Commun
Yau WY, Sullivan R, O'Connor E, Pellerin D, Parkinson MH, Giunti P, Dicaire MJ, Danzi MC, Züchner S, Brais B, Wood NW, Houlden H, Vandrovcova J.   +12 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies. [PDF]

Ann Neurol
Fogel BL, Klopstock T, Lynch DR, Maltecca F, Verma M, Minassian BA, Platt FM, Gonçalves DF, Puccio H, Roos A, Synofzik M.   +10 more
europepmc   +1 more source

Deciphering Spastic Ataxia: Clinical and Genetic Profiles. [PDF]

Neurol Genet
Damásio J, Santos M, Costa S, Moura J, Sardoeira A, Lemos C, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source

Genetic substructure in Latin American individuals reveals novel associations, mechanistic insights, and variable polygenic risk score transferability for alcohol traits

Montalvo-Ortiz J, Martínez-Magaña J, Brito DA, Trichia E, Rivera-Hernández M, Porras L, Sullivan K, Jacobson D, Kember R, Nuñez D, Torres J, Peterson R, Zhou H, Vlot A, Merlet J, Townsend A, Wells A, Alvarez C, Lane M, Alegre-Díaz J, Berumen J, Kuri-Morales P, Tapia-Conyer R, Emberson J, Kranzler H, Justice A, Gelernter J, Sanchez-Roige S, Wassertheil-Smoller S, Perreira K, Daviglus M, Nicolini H, Genis-Mendoza A, Villatoro-Velazquez J, Medina-Mora M, Bustos-Gamiño M, Belangero S, Santoro M, Rohde L, Bressan R, Miguel E, Pan P, Salum G, Tucker K, Ordovas J, Coletta D, Parra O, Klimentidis Y, Mandarino L, Moysés-Oliveira M, Tempaku P, Andersen M, Tufik S, Lancaster E, Singh M, Tusié-Luna M, Aguilar-Salinas C, Ochoa-Guzmán A, Pereira A, Martinez-Gonzalez K, Bulik C, Group SfSW, 23andMe Inc Research Team, Latin American Genomics Consortium, Atkinson E, Giusti-Rodríguez P.   +65 more
europepmc   +1 more source

Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia. [PDF]

Front Immunol
Sertori R, Truong B, Singh MK, Shinton S, Price R, Sharo A, Shultes P, Sunderam U, Rana S, Srinivasan R, Datta S, Font-Burgada J, Brenner SE, Puck JM, Wiest DL.   +14 more
europepmc   +1 more source