Results 131 to 140 of about 3,165 (187)

Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy. [PDF]

Transl Neurodegener
Yu JY, Sun YM, Dong Y, Wu JJ, Zhu CH, Du YC, Zhang YX, Zhang Y, Zou SM, Ma Y, Dong HL, Wu ZY.   +11 more
europepmc   +1 more source

Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in <i>FGF14</i>. [PDF]

Neurol Genet
Anderson SC, Patel SG, Rodrigues M, Mancuso-Marcello M, Simpson M.   +4 more
europepmc   +1 more source

RFC1 Repeat Expansion in Chronic Cough: Findings From the Korean Chronic Cough Registry. [PDF]

Allergy Asthma Immunol Res
Park KE, Lee J, Choi JP, Oh JY, Won HK, Lee HY, Birring SS, Park HW, Cho SH, Song WJ.   +9 more
europepmc   +1 more source

Efficacy of morphine on cough in patients with repeat expansions of <i>RFC1</i> and refractory chronic cough. [PDF]

ERJ Open Res
Guilleminault L, Chazelas P, Magdelaine C, Villeneuve T, Lia AS, Magy L.   +5 more
europepmc   +1 more source

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
Alm V, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +1 more source

A non-catalytic role for RFC in PCNA-mediated processive DNA synthesis. [PDF]

Cell
Chua GNL, Beckwitt EC, Miller-Browne V, Yurieva O, Zhang D, Katch BJ, Yao NY, Watters JW, Abrantes K, Funabiki R, Zhao X, O'Donnell ME, Liu S.   +12 more
europepmc   +1 more source

Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with <i>RFC1</i> expansions. [PDF]

Brain Commun
Garvey A, Melville IZ, Scriba CK, Yong V, Rodrigues M, Kao J, Glenn M, Patel S, Chang T, Caldwell J, Ren C, Laing NG, Ravenscroft G, Pelosi L, Taylor RL, Roxburgh R.   +15 more
europepmc   +1 more source

Erratum for the Research Article "AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons" by C. Maltby <i>et al.</i>

Sci Adv
europepmc   +1 more source

Biallelic RFC1 Expansions Are a Rare Cause of Early-Onset and Familial Parkinson's Disease. [PDF]

Clin Genet
Kovanda A, Šušmelj L, Jaklič H, Lukežič T, Maver A, Petrovic I, Miskovic ND, Svetel M, Rački V, Vuletič V, Novakovic I, Peterlin B.   +11 more
europepmc   +1 more source