Results 21 to 30 of about 4,949 (187)

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease [PDF]

Neurology, 2021
To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).Multimodal RFC1 repeat screening (PCR, Southern ...
Traschuetz, Andreas, Cortese, Andrea, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A, Sturm, Marc, Haack, Tobias B, Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P, Reich, Selina, Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Dominik, Natalia, Basak, A Nazli, Synofzik, Matthis, Group, RFC1 Study, Barut, Banu Özen, Bilgic, Basar, Boz, Cavit, Cauquil, Cécile, Deininger, Natalie, Dufke, Claudia, Elibol, Bülent, Faber, Jennifer, Erbas, Furkan, Ertan, Sibel, Genc, Fatma, Giegling, Ina, Parman, Yesim, Rossi, Salvatore, Salcin, Celal, Tan, Meliha, Taştekin, Hilal, Tranchant, Christine, Jacobi, Heike, Uygun, Günes, Yassa, Özge Yagcioglu, Hartmann, Annette M, Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni   +51 more
openaire   +8 more sources

RFC1 expansions are a common cause of idiopathic sensory neuropathy [PDF]

Brain, 2021
Abstract After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin.
Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stephanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laura, Alexander M Rossor, Hadi Manji, Michael P Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas J Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M Bronstein, Henry Houlden, Mary M Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese   +40 more
openaire   +5 more sources

The study of association between reduced folate carrier 1 (RFC1) polymorphism and non-syndromic cleft lip/palate in Iranian population [PDF]

BioImpacts, 2017
Introduction: Cleft lip/palate is one of the most common congenital defects and is supposed to have multifactorial etiology, including a complex interaction between genetics and environment.
Behnoosh Soghani, Asghar Ebadifar, Hamid Reza Khorram Khorshid, Koorosh Kamali, Roya Hamedi, Fatemeh Aghakhani Moghadam   +5 more
doaj   +1 more source

RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy [PDF]

Journal of Neurology, 2021
Abstract Background A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting as a slowly evolving sensory neuropathy at the onset.
Matteo Tagliapietra, Davide Cardellini, Moreno Ferrarini, Silvia Testi, Sergio Ferrari, Salvatore Monaco, Tiziana Cavallaro, Gian Maria Fabrizi   +7 more
openaire   +3 more sources

The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences. [PDF]

Health Sci Rep
ABSTRACT Background and Aims Chromosomal nondisjunction is the primary etiology of Down syndrome; however, genetic variations, environmental causes, and maternal etiologies also contribute to a great extent. The objective of this review is to evaluate these multifaceted factors during pregnancy.
Rana MS, Parvin MM, Islam MT.
europepmc   +2 more sources

Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

Frontiers in Neurology, 2022
Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies.
Jun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akihiro Hashiguchi, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Shoji Tsuji, Hiroshi Takashima   +12 more
doaj   +1 more source

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

Journal of the Neurological Sciences, 2021
A homozygous AAGGG repeat expansion within the RFC1 gene was recently described as a common cause of CANVAS syndrome. We examined 1069 sporadic ALS patients for the presence of this repeat expansion. We did not discover any carriers of the homozygous AAGGG expansion in our ALS cohort, indicating that this form of RFC1 repeat expansions is not a common ...
Abramzon Y., Dewan R., Cortese A., Resnick S., Ferrucci L., Houlden H., Traynor B. J.   +6 more
openaire   +4 more sources

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Haddad S, Poh R, Hehir J, Polke JM, Blake J, Reilly MM.   +5 more
europepmc   +2 more sources

Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder. [PDF]

Neurol Genet
OBJECTIVES: Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a RFC1-spectrum disorder.
Verrecchia L, Alm V, Thonberg H, Lenner F, Paivandy A, Feuk L, Lindstrand A, Nilsson D, Paucar M.   +8 more
europepmc   +4 more sources

Decitabine impact on the endocytosis regulator RhoA, the folate carriers RFC1 and FOLR1, and the glucose transporter GLUT4 in human tumors. [PDF]

, 2014
BackgroundIn 31 solid tumor patients treated with the demethylating agent decitabine, we performed tumor biopsies before and after the first cycle of decitabine and used immunohistochemistry (IHC) to assess whether decitabine increased expression of ...
A Kumari, AS Yang, C Festuccia, C Zeller, CA Stidley, CJ Piyathilake, D Ma, D Matei, D Shang, DJ Stewart, DJ Stewart, DJ Stewart, DJ Stewart, DJ Stewart, DJ Stewart, DW Shen, E Gordian, E San Jose-Eneriz, EA Braga, F Crea, F Fang, H Iwata, H Kantarjian, H Kroeger, HM Kantarjian, J Charlet, J Shia, JA Plumb, JP Issa, JP Issa, JS Kim, K Ghoshal, K Onda, K Ramachandran, K Tikoo, KY Tse, L Ding, L Rothem, MA Kane, ML Orta, NH Nabilsi, R Zhao, RH Finnell, S Fu, S Vijayaraghavalu, SB Baylin, SS Muerkoster, T Tanaka, TB Lee, VF Chekhun, X Chang, XJ Liang, Y Li, Y Oki, Y Zhang, ZG Liu   +55 more
core   +2 more sources