Results 121 to 130 of about 3,165 (187)

Chronic Idiopathic Axonal Polyneuropathy: Current Evidence and Future Directions. [PDF]

Cells
Bjelica B, Peric S, Bozovic I, Koerner S, Vukojevic M, Petri S, Haghikia A.   +6 more
europepmc   +1 more source

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS. [PDF]

J Neurol
Pellerin D, Heindl F, Traschütz A, Iruzubieta P, Dicaire MJ, Zuchner S, Hartmann AM, Rujescu D, Houlden H, Brais B, Strupp M, Synofzik M.   +11 more
europepmc   +1 more source

Maternal <i>RFC1</i> Gene Polymorphisms and Neural Tube Defects: A Case-Control Study in Ethiopia. [PDF]

Genes (Basel)
Molla HT, Gashu D, Stoecker B, Chowanadisai W.   +3 more
europepmc   +1 more source

A genetic profile of hereditary neuropathies in two Southern African cohorts. [PDF]

Front Neurol
Europa T, Zimba S, Floudiotis N, Wa Somwe S, Bearden D, Kapapa M, Horvath R, Wilson L, Dominik N, Hanna M, Reilly MM, Record CJ, Schon K, Elshahawy SM, Peerbhai N, Heckmann JM, Kvalsund M, Nel M.   +17 more
europepmc   +1 more source

Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy. [PDF]

Ann Neurol
Tang Z, Ovunc SS, Iwase R, Mehinovic E, Thomas S, Ulibarri J, Li Z, Baldridge D, Cruchaga C, Liu M, Johnson M, Milbrandt J, Callaghan B, PNRR Study Group, Höke A, Todd PK, Jin SC.   +16 more
europepmc   +1 more source

The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait. [PDF]

Pulm Ther
Dong R, Zhang M, Morice AH.
europepmc   +1 more source

RFC1-related disorders: A case series of 4-aminopyridine and acetyl-DL-leucine treatment. [PDF]

Cerebellum
Heindl F, Traschütz A, Synofzik M, Wirth T, Anheim M, Tarnutzer AA, Hartmann AM, Rujescu D, Giegling I, Feil K, Adrion C, Strupp M.   +11 more
europepmc   +1 more source

TandemTwister: scalable genotyping and advanced visualization of tandem repeats. [PDF]

NAR Genom Bioinform
Al Raei LW, Ghareghani M, Moeinzadeh MH, Vingron M.   +3 more
europepmc   +1 more source

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [PDF]

Brain
Erdmann H, Schaub A, Lucas MC, Scholz V, Benet-Pagès A, Becker K, Dineiger C, Mayer V, van Buren I, Breithausen E, Akbari K, Cordts I, Sauer M, Schneider C, Krakowsky R, Schnabel F, Dunker K, Fabritius L, Gerb J, Grabova D, Möhwald K, Näher M, Steinmetz K, Thiessen F, Jäck A, Schneider-Gold C, Zittel S, Petersen C, Schreyer I, Mämecke L, Wilfling S, Wunderlich G, Brenner D, Hellenbroich Y, Muhle K, Huchtemann T, Claus I, Klopstock T, Strupp M, Levin J, Höglinger GU, Huppert D, Becker-Bense S, Filippopulos F, Kilpert F, Leitão E, Kaya S, Depienne C, Schöberl F, Neuhann T, Holinski-Feder E, Zwergal A, Abicht A.   +52 more
europepmc   +1 more source