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101

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

Arslan, Elif Acar, Göçmen, Rahşan, Oğuz, Kader Karlı, Konuşkan, Gökçen Düzgün, Serdaroğlu, Esra, Topaloğlu, Haluk, Topçu, Meral

Journal:

Acta Neurologica Belgica

Year:

2017

Language:

english

File:

PDF, 1.98 MB

english, 2017

102

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

Karakaya, Mert, Ceyhan-Birsoy, Ozge, Beggs, Alan H., Topaloglu, Haluk

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2017

Language:

english

File:

PDF, 322 KB

english, 2017

103

Neonatal-Onset Recurrent Guillain–Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency

Ardicli, Didem, Taskiran, Ekim, Kosukcu, Can, Temucin, Cagri, Oguz, Kader, Haliloglu, Goknur, Alikasifoglu, Mehmet, Topaloglu, Haluk

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 180 KB

english, 2017

104

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

Victor, Ronald G., Sweeney, H. Lee, Finkel, Richard, McDonald, Craig M., Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L., Topaloglu, Haluk, Miceli, M. Carr

Journal:

Year:

2017

Language:

english

File:

PDF, 670 KB

english, 2017

105

Clinical presentation of anti-N-methyl-D-aspartate receptor and anti-voltage-gated potassium channel complex antibodies in children: a series of 24 cases

Konuskan, Bahadir, Yildirim, Mirac, Topaloglu, Haluk, Erol, Ilknur, Oztoprak, Ulkuhan, Tan, Huseyin, Gocmen, Rahsan, Anlar, Banu

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 603 KB

english, 2017

106

Neurologic Involvement in Primary Immunodeficiency Disorders

Yildirim, Mirac, Ayvaz, Deniz Cagdas, Konuskan, Bahadir, Gocmen, Rahsan, Tezcan, Ilhan, Topcu, Meral, Topaloglu, Haluk, Anlar, Banu

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 400 KB

english, 2018

107

Duchenne musküler distrofi’de üst ekstremite dinamik egzersizinin solunum fonksiyonu ve yaşam kalitesi üzerine etkisi; Effects of upper extremity dynamic exercise on respiratory function and quality of life in duchenne muscular dystrophy;

ALEMDAROĞLU, İpek, KARADUMAN, Ayşe, YILMAZ, Öznur, TOPALOĞLU, Haluk

Journal:

Türk Fizyoterapi ve Rehabilitasyon Dergisi/Turkish Journal of Physiotherapy and Rehabilitation

Year:

2014

File:

PDF, 262 KB

2014

108

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2

Laššuthová, Petra, Vill, Katharina, Erdem-Ozdamar, Sevim, Michael Schröder, J., Topaloglu, Haluk, Horvath, Rita, Müller-Felber, Wolfgang, Bansagi, Boglarka, Schlotter-Weigel, Beate, Gläser, Dieter, Ne

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 726 KB

english, 2018

109

Recent therapeutic developments of spinal muscular atrophy

BORA, GAMZE, YEŞBEK-KAYMAZ, AYŞE, BEKİRCAN-KURT, CAN EBRU, HALİLOĞLU, VİLDAN GÖKNUR, TOPALOĞLU, HALUK AYDIN, ERDEM-YURTER, HAYAT, ERDEM-ÖZDAMAR, SEVİM

Journal:

TURKISH JOURNAL OF MEDICAL SCIENCES

Year:

2018

Language:

english

File:

PDF, 6.30 MB

english, 2018

110

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

Beksac, Mehmet Sinan, Tanacan, Atakan, Aydin Hakli, Duygu, Orgul, Gokcen, Soyak, Burcu, Balci Hayta, Burcu, Dincer, Pervin, Topaloğlu, Haluk

Journal:

Journal of Pregnancy

Year:

2018

Language:

english

File:

PDF, 1.44 MB

english, 2018

111

Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

Beksac, M.Sinan, Yurter, Hayat, Tanacan, Atakan, Soyak, Burcu, Orgul, Gokcen, Aydin Hakli, Duygu, Celik, Tolga, Bora, Gamze, Cakar, Ayse Nur, Topaloglu, Haluk

Journal:

South African Journal of Obstetrics and Gynaecology

Year:

2018

Language:

english

File:

PDF, 102 KB

english, 2018

112

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

Fadiloglu, Erdem, Ozten, Gonca, Unal, Canan, Talim, Beril, Topaloglu, Haluk, Beksac, Mehmet Sinan

Journal:

Fetal and Pediatric Pathology

Year:

2018

Language:

english

File:

PDF, 917 KB

english, 2018

113

Mystery Case: Pontine tegmental cap dysplasia in a neonate

Bilgin, Neslihan, Parlak, Safak, Şimşek-Kiper, Pelin Özlem, Topcu, Meral, Topaloglu, Haluk

Journal:

Year:

2018

Language:

english

File:

PDF, 160 KB

english, 2018

114

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

Ardıçlı, Didem, Haliloğlu, Goknur, Alikaşifoğlu, Mehmet, Topaloğlu, Haluk

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 106 KB

english, 2018

115

Cystic Fibrosis Mutation and Associated Haplotypes in Turkish Cystic Fibrosis Patients

Onay, Tuncer, Zielenski, Julian, Topaloglu, Ozlem, Gokgoz, Nalan, Kayserili, Hulya, Apak, Memnune Yuksel, Camcioglu, Yildiz, Cokugras, Haluk, Akcakaya, Necla, Tsui, Lap-Chee, Kirdar, Betul

Journal:

Year:

2001

File:

PDF, 222 KB

2001

116

Nesprinopathy: A multi-faceted genetic disorder

Bektaş, Hatice, Topaloglu, Haluk

Journal:

European Journal of Paediatric Neurology

Year:

2019

Language:

english

File:

PDF, 221 KB

english, 2019

117

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

Yıldız, Yılmaz, Talim, Beril, Haliloglu, Goknur, Topaloglu, Haluk, Akçören, Zuhal, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül

Journal:

Pediatric Neurology

Year:

2019

File:

PDF, 1.15 MB

2019

118

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Arslan, Elif Acar, Öncel, İbrahim, Ceylan, Ahmet Cevdet, Topçu, Meral, Topaloğlu, Haluk

Journal:

Brain and Development

Year:

2019

Language:

english

File:

PDF, 790 KB

english, 2019

119

Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child

Topaloğlu, Haluk, Renda, Yavuz, Gögüs, Safiye, Benli, Sibel, Nurlu, Gülay, Yildirim, Mustafa

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

1990

File:

PDF, 944 KB

1990

120

Novel Missense ALDH3A2 Mutation in a Patient with Sjögren–Larsson Syndrome

Tagiyev, Anar, Cavdarli, Busranur, Konuskan, Bahadir, Topaloglu, Haluk

Journal:

Journal of Pediatric Neurology

Year:

2019

Language:

english

File:

PDF, 209 KB

english, 2019

121

Erratum to ‘Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency’ [Pediatric Neurology 99 (2019) 69–75]

Yıldız, Yılmaz, Talim, Beril, Haliloglu, Goknur, Topaloglu, Haluk, Akçören, Zuhal, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül

Journal:

Pediatric Neurology

Year:

2019

File:

PDF, 117 KB

2019

122

Novel Missense ALDH3A2 Mutation in a Patient with Sjögren–Larsson Syndrome

Tagiyev, Anar, Cavdarli, Busranur, Konuskan, Bahadir, Topaloglu, Haluk

Journal:

Journal of Pediatric Neurology

Year:

2019

File:

PDF, 209 KB

2019

123

Assessment of Neurologic Disorders and Rare Intracranial Anomalies Associated With Cleft Lip and Palate

Kucukguven, Arda, Calis, Mert, Topaloglu, Haluk, Ozgur, Figen

Journal:

Journal of Craniofacial Surgery

Year:

2018

File:

PDF, 149 KB

2018

124

Spinal muscular atrophy

Topaloglu, Haluk, Kuntz, Nancy

Journal:

Year:

2020

File:

PDF, 127 KB

2020

125

The common microRNA signatures associated with mitochondrial dysfunction in different muscular dystrophies

Aksu-Menges, Evrim, Akkaya-Ulum, Yeliz Zulfiye, Dayangac-Erden, Didem, Balci-Peynircioglu, Banu, Yuzbasioglu, Ayse, Topaloglu, Haluk, Talim, Beril, Balci-Hayta, Burcu

Journal:

The American Journal of Pathology

Year:

2020

File:

PDF, 13.39 MB

2020

126

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

Sag, Erdal, Kale, Gulsev, Haliloglu, Goknur, Bilginer, Yelda, Akcoren, Zuhal, Orhan, Diclehan, Gucer, Safak, Topaloglu, Haluk, Ozen, Seza, Talim, Beril

Journal:

Rheumatology International

Year:

2020

File:

PDF, 1.76 MB

2020