Monoallelic POLR3A variants cause early-onset peripheral neuropathy

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Annals of neurology - ISSN 0364-5134- (2026) p.
Auteur(s)
    Luiza Lorena Pires Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez-Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D.M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayşe Candayan, Albena Jordanova

Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye : distinct distribution, rare phenotypes, and novel variants

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European journal of neurology - ISSN 1351-5101-32:1 (2025) p. 1-12
Auteur(s)
    Arman Cakar, Ayşe Candayan, Gulandam Bagırova, Zehra Oya Uyguner, Serdar Ceylaner, Hacer Durmus, Esra Battaloglu, Yesim Parman

Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria

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International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
Auteur(s)

Phenotypical spectrum of SACS variants : neuromuscular perspective of a complex neurodegenerative disorder

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Acta neurologica Scandinavica - ISSN 0001-6314-145:5 (2022) p. 619-626
Auteur(s)
    Arman Çakar, Meltem İnci, Ayşe Nur Özdağ Acarlı, Sinan Çomu, Ayşe Candayan, Esra Battaloğlu, Şeyma Tekgül, Ayşe Nazlı Başak, Hacer Durmuş, Yeşim Parman

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas) : an important cause of late-onset ataxia with unique clinical features

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Acta neurologica Belgica - ISSN 0300-9009-122:4 (2022) p. 939-945
Auteur(s)
    Arman Çakar, Erdi Şahin, Seden Tezel, Ayşe Candayan, Bedia Samancı, Esra Battaloğlu, A. Nazlı Başak, Başar Bilgiç, Haşmet Hanağası, Hacer Durmuş, Yeşim Parman