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

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

Phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia

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Cells - ISSN 2073-4409-11:18 (2022) p. 1-14
Auteur(s)
    Stojan Peric, Vladana Markovic, Ayşe Candayan, Els De Vriendt, Nikola Momcilovic, Andrija Savic, Natasa Dragasevic-Miskovic, Marina Svetel, Zorica Stevic, Ivo Bozovic, Sarlota Mesaros, Jelena Drulovic, Ivana Basta, Igor Petrovic, Olivera Tamas, Milija Mijajlovic, Ivana Novakovic, Dragoslav Sokic, Albena Jordanova

Clinical and genetic survey for Charcot-Marie-Tooth neuropathy based on the findings in Turkey, a country with a high rate of consanguineous marriages

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Balkan Medical Journal - ISSN 2146-3123-39:1 (2022) p. 3-11
Auteur(s)

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

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The American journal of human genetics - ISSN 0002-9297-109:3 (2022) p. 518-532
Auteur(s)
    Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L. van Eyk, Jozef Gecz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Wlodkowic, Yesim Parman, Ayşe Candayan, Elif Kocasoy-Orhan, Anat Ilivitzki, Shiri Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Gil Ast, Vandana Shashi, Michael C. Fahey, Esra Battalog, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman