Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome by Giulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, Andrea Tozzi, Valentina Fioravanti, Edoardo Monfrini, Annalisa Gessani, Jessica Rossi, Isabella Campanini, Andrea Merlo, Dario Ronchi, Manuela Napoli, Rosario Pascarella, Sara Grisanti, Giuseppe Ferrulli, Rossella Sabadini, Alessio Di Fonzo, Angelo Ghidini, Franco Valzania

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Polymorphisms in maternal selected folate metabolism-related genes in neural tube defect-affected pregnancy by Winner K Dewelle, Daniel S Melka, Abenezer T Aklilu, Mahlet Y Gebremariam, Markos A Alemayehu, Dawit H Alemayehu, Tamrayehu S Woldemichael, Solomon G Gebre

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The study of association between reduced folate carrier 1 (RFC1) polymorphism and non-syndromic cleft lip/palate in Iranian population by Behnoosh Soghani, Asghar Ebadifar, Hamid Reza Khorram Khorshid, Koorosh Kamali, Roya Hamedi, Fatemeh Aghakhani Moghadam

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Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study by Neda Farajnezhad, Pegah Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-Asl

Subjects: “…down syndrome, folic acid, polymorphism, cbs, rfc1.…”
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Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy by Krishna Singh, Sakshi Shukla, Uma Shankar, Neha Jain, Rishav Nag, Kumari Aditi Pramod, Amit Kumar

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review by E. P. Nuzhnyi, S. N. Illarioshkin

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Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey by Figen Gökçay, Gülcan Neşem Baskan, Irmak Şahbaz, Müge Kovancılar Koç, A. Nazlı Başak, Nese Celebisoy

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Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat Expansions by Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese

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

Subjects: “…RFC1…”
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Reduced folate carrier 1 is present in retinal microvessels and crucial for the inner blood retinal barrier integrity by Gokce Gurler, Nevin Belder, Mustafa Caglar Beker, Melike Sever-Bahcekapili, Gokhan Uruk, Ertugrul Kilic, Muge Yemisci

Subjects: “…RFC1…”
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Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS by Max Borsche, Vera Tadic, Inke R. König, Katja Lohmann, Christoph Helmchen, Norbert Brüggemann

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Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan by Masahiro Ando, Yujiro Higuchi, Junhui H. Yuan, Akiko Yoshimura, Shuntaro Higashi, Mika Takeuchi, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Yuji Okamoto, Masahiro Nagai, Hiroshi Takashima

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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible by Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Fumikazu Kojima, Yutaka Noguchi, Takahiro Hobara, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima

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Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome — meta-analysis by Medica Igor, Maver Ales, Augusto Goncalo, Peterlin Borut

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