Results 111 to 120 of about 3,165 (187)

Low Dose Methotrexate Has Divergent Effects on Cycling and Resting Human Hematopoietic Stem and Progenitor Cells

Clinical and Translational Science
Low dose methotrexate (LD‐MTX) remains the gold standard in rheumatoid arthritis (RA) therapy. Multiple mechanisms on a variety of immune cells contribute to the anti‐inflammatory effects of LD‐MTX.
Maximilien Lora, H. A. Ménard, Anastasia Nijnik, David Langlais, Marie Hudson, Inés Colmegna   +5 more
doaj   +1 more source

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies [PDF]

Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 (RFC1) have recently been described to be responsible for cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome.

core   +1 more source

Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease

BACKGROUND AND OBJECTIVES: Biallelic intronic repeat expansions in the replication factor C subunit 1 (RFC1) gene are a common cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome and other late-onset ataxias. Recent evidence suggests a broader phenotypic spectrum.
Massucco, Sara, Hamedani, Mehrnaz, Ponzano, Marta, Manca, Riccardo, Roveta, Edoardo, Pichiecchio, Anna, Asteggiano, Carlo, Zaottini, Federico, Malaquias, Maria João, Currò, Riccardo, Pardini, Matteo, Schenone, Angelo, Massa, Federico, Cortese, Andrea, Grandis, Marina   +14 more
openaire   +1 more source

Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study. [PDF]

J Neurol
Massucco S, Leandri M, Bruzzone V, Nobbio L, Hamedani M, Stara S, Bellone E, Geroldi A, Venturi C, Gemelli C, Schenone A, Marinelli L, Grandis M.   +12 more
europepmc   +1 more source

RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications. [PDF]

J Peripher Nerv Syst
Gajate-García V, Fenollar-Cortés M, Galán L, Oancea-Ionescu R, Guerrero-Solá A, Horga A.   +5 more
europepmc   +1 more source

Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner). [PDF]

Cerebellum
Lazdovska K, Baborikina A, Krutovs V, Rozevska M, Ķēniņa V.   +4 more
europepmc   +1 more source

Bi- and Mono-Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy. [PDF]

Ann Clin Transl Neurol
Stino AM, Muthukumar L, Reynolds EL, Todd P, Ovunc S, Jin SC, Tang Z, Thomas S, PNRR Study Group, Höke A, Callaghan BC.   +10 more
europepmc   +1 more source

An update on neuro-otology and neuro-ophthalmology - focusing on new developments in the last three years. [PDF]

J Neurol
Tarnutzer AA, Strupp ML, Lehner L.
europepmc   +1 more source

Confirmatory Molecular Diagnosis of <i>RFC1</i> Expansion in a Korean CANVAS Case Using Nanopore Cas9-Targeted Sequencing. [PDF]

J Clin Neurol
Kim JM, Kim N, Lee S, Moon J.
europepmc   +1 more source

Mechanistic diversity of clamp loading at small DNA gaps. [PDF]

J Biol Chem
Zheng F, O'Donnell ME, Li H.
europepmc   +1 more source