Publications by authors named "Haluk 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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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Dilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, Semra Hiz Kurul, Uluc Yis, Haluk Topaloglu

Cerebellum· October 2024

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Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy.
Amy D Harper, Haluk Topaloglu, Eugenio Mercuri, Vasiliy Suslov, Liwen Wu

Sci Rep· October 2024

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Sleep quality and daytime sleepiness amongst family caregivers of children with Spinal Muscular Atrophy.
Numan Bulut, Güllü Aydın Yağcıoğlu, Fatma Uğur, Özlem Yayıcı Köken, İpek Gürbüz

Res Dev Disabil· September 2024

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Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu

J Neuromuscul Dis· July 2024

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Recurrent vomiting in Panayiotopoulos syndrome.
Ege Fırıloğlu, Ali Zeki Bedir, Haluk Aydın Topaloğlu

Acta Neurol Belg· June 2024

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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Gulcin Akinci, Saif Alyaarubi, Nivedita Patni, Nadia Alhashmi, Azza Al-Shidhani, Haluk Topaloglu

Am J Med Genet A· June 2024

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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon

Brain· December 2023

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European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
Pieter A van Doorn, Peter Y K Van den Bergh, Robert D M Hadden, Bert Avau, Patrik Vankrunkelsven, Haluk A Topaloglu

J Peripher Nerv Syst· December 2023

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European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
Pieter A van Doorn, Peter Y K Van den Bergh, Robert D M Hadden, Bert Avau, Patrik Vankrunkelsven, Haluk A Topaloglu

Eur J Neurol· December 2023

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Smartphone measures motor and respiratory function in spinal muscular atrophy.
Haluk Topaloğlu, Ayşe Nur Coşkun

Neuromuscul Disord· November 2023

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Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Bertini, Wuh-Liang Hwu, Haluk Topaloglu

Muscle Nerve· August 2023

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High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Büşranur Çavdarlı, Özlem Yayici Köken, Saide Betül Arslan Satılmış, Şule Bilen, Didem Ardıçlı

Ann Hum Genet· May 2023

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-related congenital myopathy: expansion of the clinical and genetic spectrum.
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu

J Med Genet· November 2022

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Alterations in insulin-like growth factor system in spinal muscular atrophy.
Ayse Yesbek Kaymaz, Sevgi Kostel Bal, Gamze Bora, Beril Talim, Alev Ozon, Haluk Topaloglu

Muscle Nerve· November 2022

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The complex genetic inheritance of Anatolia, Turkey.
Haluk Topaloğlu

Dev Med Child Neurol· October 2022

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Corrigendum to 'The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever' [Neuromuscular Disorders 32 (2022) 575-577].
Olcay Ünver, Tolga Çelik, Aslı Memişoğlu, Esra Esim Büyükbayrak, Fatma Tülin S Şimşek

Neuromuscul Disord· October 2022

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The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: .
Numan Bulut, Ayşe Karaduman, İpek Alemdaroğlu-Gürbüz, Öznur Yılmaz, Haluk Topaloğlu

Clin Rehabil· August 2022

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The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever.
Olcay Ünver, Tolga Çelik, Aslı Memişoğlu, Esra Esim Büyükbayrak, Fatma Tülin Şimşek

Neuromuscul Disord· July 2022

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Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy.
Gökçe Eser, Haluk Topaloğlu

Genes (Basel)· July 2022

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Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy.
Numan Bulut, Ayşe Karaduman, İpek Alemdaroğlu-Gürbüz, Öznur Yilmaz, Haluk Topaloğlu

Arq Neuropsiquiatr· May 2022

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