Publications by authors named "H Topaloglu"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Haluk Topaloglu

J Clin Invest· December 2025

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Tissue-Selective Effects of PLEC Isoform Deficiency: Insights From A Muscle Only Phenotype.
Hulya Gundesli, Haluk Topaloglu, Pervin Dincer

Muscle Nerve· December 2025

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Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Clara Hildebrandt, Casie A Genetti, Tanya Logvinenko, Wathone Win, Pamela Barraza-Flores, Haluk Topaloglu

Neurol Genet· August 2025

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Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Gulcin Akinci, Berk Ozyilmaz, Gulten Ozturk, Mustafa Komur, Ece Onel, Haluk Topaloglu

Neuromuscul Disord· August 2025

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Letter to the editor: In response to Landfeldt E et al., predictors of loss of ambulation in Duchenne Muscular Dystrophy: A systematic review and meta-analysis.
Gulcin Akinci, Haluk Topaloglu

J Neuromuscul Dis· December 2024

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