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Author

Z. Yapıcı

3 papers indexed here

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Oct 2026

Long-term real-world outcomes of nusinersen treatment in patients with spinal muscular atrophy types I-III.

BACKGROUND Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations or deletions in the survival motor neuron 1 (SMN) gene, with disease severity influenced by SMN2 copy number. Nusinersen, an antisense oligonucleotide therapy, has emerged as an effective treatment option. This...

Gulshan Aliyeva, Sezan Mergen Kilic, Z. Yapıcı et al. · 0 citations
Case report Open access Oct 2026

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.

M. Kılıç, P. Dušek, Ibrahim Kamaci et al. · 0 citations
Sep 2026

Photosensitive absence seizures: a rare endophenotype with clinical and prognostic implications.

OBJECTIVE Photosensitivity is a well-recognized phenomenon in epilepsy, yet its association with absence seizures (AS) is rarely described and poorly understood. This study aims to characterize the clinical and electrophysiological features of patients exhibiting AS induced by photic stimulation (PS) and evaluate their...

Rodi Sari Polat, Ozgu Kizek, PinarTopaloğlu et al. · 0 citations

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