Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review
Salici, Nazmiye Selin, Ozcanli, Adil, Rasulova, Gunel, Basak, Ayse Nazli, Tekgul, Seyma, Vural, Secil
Published in Australasian journal of dermatology (01.05.2024)
Published in Australasian journal of dermatology (01.05.2024)
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Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
Pellerin, David, Iruzubieta, Pablo, Tekgül, Şeyma, Danzi, Matt C., Ashton, Catherine, Dicaire, Marie‐Josée, Wandzel, Marion, Roth, Virginie, Lamont, Phillipa J., Bonnet, Céline, Renaud, Mathilde, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard, Başak, Nazlı A., Houlden, Henry
Published in Movement disorders (01.08.2023)
Published in Movement disorders (01.08.2023)
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Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood
Sahin, Turgut, Karaarslan, Fatma Tugra, Yilmaz, Rezzak, Tekgül, Şeyma, Başak, Ayşe Nazlı, Akbostanci, Muhittin Cenk
Published in Clinical neurology and neurosurgery (01.02.2021)
Published in Clinical neurology and neurosurgery (01.02.2021)
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Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
Çakar, Arman, İnci, Meltem, Özdağ Acarlı, Ayşe Nur, Çomu, Sinan, Candayan, Ayşe, Battaloğlu, Esra, Tekgül, Şeyma, Başak, Ayşe Nazlı, Durmuş, Hacer, Parman, Yeşim
Published in Acta neurologica Scandinavica (01.05.2022)
Published in Acta neurologica Scandinavica (01.05.2022)
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