Topaloḡlu, Haluk: search on Z-Library

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1

FARKLI NÖROMUSKÜLER HASTALIKLARDA AYAK BİLEĞİ LİMİTASYONUNUN YÜRÜME BECERİSİ ÜZERİNE ETKİSİ; Effect of ankle joint limitation on walking ability in different neuromuscular diseases;

Kaya, Pınar, Alemdaroğlu, İpek, Yilmaz, Öznur, Karaduman, Ayşe, Topaloğlu, Haluk

Journal:

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

Year:

2014

File:

PDF, 706 KB

2014

2

Different types of upper extremity exercise training in Duchenne muscular dystrophy: Effects on functional performance, strength, endurance, and ambulation

Alemdaroğlu, Ipek, Karaduman, Ayşe, Yilmaz, Öznur Tunca, Topaloğlu, Haluk

Journal:

Year:

2015

Language:

english

File:

PDF, 762 KB

english, 2015

3

Cerebral infarct associated with factor V Leiden mutation in a boy with hemophilia A

Olcay, Lale, Gürgey, Aytemiz, Topaloğlu, Haluk, Altay, Sedat, Parlak, Hülya, Firat, Murat

Journal:

American Journal of Hematology

Year:

1997

Language:

english

File:

PDF, 77 KB

english, 1997

4

ALLEGATIONS OF TORTURE IN TURKEY

Renda, Yavuz, Yalaz, Kalbiye, Topaloglu, Haluk, Topcu, Meral, Gucuyener, Kivilcim, Bozer, A.Yuksel, Sahin, Atalay, Tuncel, Mehmet, Soypaçaci, Zeki, Sahin, Sabit

Journal:

Year:

1989

Language:

english

File:

PDF, 483 KB

english, 1989

5

Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study

Bora, Gamze, Subaşı-Yıldız, Şulenur, Yeşbek-Kaymaz, Ayşe, Bulut, Numan, Alemdaroğlu, İpek, Tunca-Yılmaz, Öznur, Topaloğlu, Haluk, Karaduman, Aynur Ayşe, Erdem-Yurter, Hayat

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 387 KB

english, 2018

6

Spectrum of Brain Changes in Patients With Congenital Muscular Dystrophy and FKRP Gene Mutations

Mercuri, Eugenio, Topaloglu, Haluk, Brockington, Martin, Berardinelli, Angela, Pichiecchio, Anna, Santorelli, Filippo, Rutherford, Mary, Talim, Beril, Ricci, Enzo, Voit, Thomas, Muntoni, Francesco

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 291 KB

english, 2006

7

Electroencephalographic findings in anti- N -methyl- d -aspartate receptor encephalitis in children: A series of 12 patients

Yildirim, Mirac, Konuskan, Bahadir, Yalnizoglu, Dilek, Topaloglu, Haluk, Erol, Ilknur, Anlar, Banu

Journal:

Epilepsy & Behavior

Year:

2018

Language:

english

File:

PDF, 3.08 MB

english, 2018

8

Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of NeurologyAuthor Response

Topaloglu, Haluk, Gloss, David, Moxley, Richard T., Ashwal, Stephen, Oskoui, Maryam

Journal:

Year:

2016

Language:

english

File:

PDF, 105 KB

english, 2016

9

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Léna Guillot-Noël, Haluk Topaloglu, Francisco Javier Carod-Artal, Hülya Kayserili, Fayçal Hentati, Luciano Merlini, Jon Andoni Urtizberea, EL-Hadi H

Journal:

Year:

2006

Language:

english

File:

PDF, 507 KB

english, 2006

10

Childhood optic neuritis: The pediatric neurologist's perspective

Gül Çakmaklı, Aslı, Kurne, Alev Güven, Ayşe Serdaroğlu, Haluk Topaloğlu, Serap Teber, Banu Anlar

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

11

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Kancheva, Daliya, Atkinson, Derek, De Rijk, Peter, Zimon, Magdalena, Chamova, Teodora, Mitev, Vanyo, Yaramis, Ahmet, Maria Fabrizi, Gian, Topaloglu, Haluk, Tournev, Ivailo, Parma, Yesim, Battaloglu, E

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 990 KB

english, 2015

12

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

13

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

14

10.1038/82638

Fontaine, Bertrand, Nicole, Sophie, Davoine, Claire-Sophie, Topaloglu, Haluk, Cattolico, Laurence, Barral, Duarte, Beighton, Peter, Hamida, Christiane Ben, Hammouda, Hadi, Cruaud, Corinne, White, Pete

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

15

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci

Beril Talim, Ana Ferreiro, Bru Cormand, Nicolas Vignier, Aytekin Oto, Safiye Göǧüş, Ayşenur Cila, Anna-Elina Lehesjoki, Helena Pihko, Pascale Guicheney, Haluk Topaloǧlu

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 2.49 MB

english, 2000

16

Infantile anti-MuSK positive myasthenia gravis in a patient with autoimmune polyendocrinopathy type 3

Duman, Ozgur, Koken, Resit, Baran, R. Taner, Haspolat, Senay, Topaloglu, Haluk

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 461 KB

english, 2014

17

Neurologic features as initial presentations of childhood malignancies

Aysun, Sabiha, Topçu, Meral, Günay, Meral, Topaloǧlu, Haluk

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 412 KB

english, 1994

18

The Rett syndrome in males

Topçu, Meral, Topaloğlu, Haluk, Renda, Yavuz, Berker, Mustafa, Turanlı, Güzide

Journal:

Brain and Development

Year:

1991

Language:

english

File:

PDF, 417 KB

english, 1991

19

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Akinci, Gulcin, Topaloglu, Haluk, Akinci, Baris, Onay, Huseyin, Karadeniz, Cem, Ergul, Yakup, Demir, Tevfik, Ozcan, Emin Evren, Altay, Canan, Atik, Tahir, Garg, Abhimanyu

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 2.25 MB

english, 2016

20

102nd ENMC International Workshop on Schwartz–Jampel Syndrome, 14–16 December, 2001, Naarden, The Netherlands

Sophie Nicole, Haluk Topaloglu, Bertrand Fontaine

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

21

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

22

Congenital muscular dystrophy (non-fukuyama type) in Turkey: A clinical and pathological evaluation

Topaloğlu, Haluk, Yalaz, Kalbiye, Renda, Yavuz, Kale, Gülsev, Çağlar, Melda, Göğüş, Safiye

Journal:

Brain and Development

Year:

1989

Language:

english

File:

PDF, 2.30 MB

english, 1989

23

MUSCULAR DYSTROPHY OR SPINAL MUSCULAR ATROPHY?

Topaloglu, Haluk, Renda, Yavuz, Kale, Gulsev, Gucuyener, Kivilcim

Journal:

Year:

1989

Language:

english

File:

PDF, 322 KB

english, 1989

24

Spinal muscular atrophy

Topaloglu, Haluk, Kuntz, Nancy

Journal:

Year:

2020

File:

PDF, 127 KB

2020

25

Clinical and Histopathological Study of Merosin-deficient and Merosin-positive Congenital Muscular Dystrophy

Beril Talim, Gülsev Kale, Haluk Topaloglu, Zuhal Akçören, Melda Çaglar, Safiye Gögüş, Mürüvet Elkay

Journal:

Pediatric and Developmental Pathology

Year:

2000

Language:

english

File:

PDF, 1.81 MB

english, 2000

26

Myositis associated with growth hormone therapy

Nurşen Yordam, Nurgün Kandemir, Haluk Topaloglu, Safiye Gögüs, Türkan Küçükali

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 93 KB

english, 1994

27

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy

Isam Naom, Caroline Sewry, Mariella D'Alessandro, Haluk Topaloglu, Alessandra Ferlini, Lesley Wilson, Victor Dubowitz, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 297 KB

english, 1997

28

Determining physical fitness levels of children with neuromuscular dyseases

Ayse Karaduman, Mehmet Karakaya, Volga Bayrakçi, Kylyçhan Bayar, Öznur Tunca, Özgen Aras, Haluk Topaloglu

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 255 KB

english, 1997

29

Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42

Martin Brockington, Caroline A. Sewry, Ralf Herrmann, Isam Naom, Andrew Dearlove, Michael Rhodes, Haluk Topaloglu, Victor Dubowitz, Thomas Voit, Francesco Muntoni

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1000 KB

english, 2000

30

Monomelic amyotrophy in siblings

Gücüyener, Kivilcim, Aysun, Sabiha, Topaloglu, Haluk, Inan, Levent, Varli, Kubilay

Journal:

Pediatric Neurology

Year:

1991

Language:

english

File:

PDF, 412 KB

english, 1991

31

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects

Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Küçükşahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nürnberg, Peter, Aydingoz, Ustun, Topaloglu, Haluk, Cirak, Sebahattin

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.99 MB

english, 2017

32

Corrigendum to “Challenges in pediatric chronic inflammatory demyelinating polyneuropathy” [Neuromuscular Disorders 26/12 (2016) 817–824]

Haliloğlu, Göknur, Yüksel, Deniz, Temoçin, Cağri Mesut, Topaloğlu, Haluk

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 288 KB

english, 2017

33

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

34

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

35

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

36

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.50 MB

english, 1999

37

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

38

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Lehtokari, Vilma-Lotta, Pelin, Katarina, Donner, Kati, Voit, Thomas, Rudnik-Schöneborn, Sabine, Stoetter, Mechthild, Talim, Beril, Topaloglu, Haluk, Laing, Nigel G, Wallgren-Pettersson, Carina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 268 KB

english, 2008

39

Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR

Nalan Gökgöz, Faik Kuseyri, Haluk TopaloǦlu, Memnune Yüksel-Apak, Betül Kirdar

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 1.01 MB

english, 1993

40

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study

Voit, Thomas, Topaloglu, Haluk, Straub, Volker, Muntoni, Francesco, Deconinck, Nicolas, Campion, Giles, De Kimpe, Sjef J, Eagle, Michelle, Guglieri, Michela, Hood, Steve, Liefaard, Lia, Lourbakos, Afr

Journal:

The Lancet Neurology

Year:

2014

Language:

english

File:

PDF, 278 KB

english, 2014

41

Glycosylation defects in muscular dystrophies

Haliloğlu, Göknur, Topaloğlu, Haluk

Journal:

Current Opinion in Neurology

Year:

2004

Language:

english

File:

PDF, 100 KB

english, 2004

42

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

43

10.1038/81701

Koenig, Michel, Bomont, Pascale, Cavalier, Laurent, Blondeau, François, Hamida, Christiane Ben, Belal, Samir, Tazir, Meriem, Demir, Ercan, Topaloglu, Haluk, Korinthenberg, Rudolf, Tüysüz, Beyhan, Land

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 290 KB

english, 2000

44

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

Ersin Tan, Haluk Topaloglu, Caroline Sewry, Yasar Zorlu, Isam Naom, Sevim Erdem, Mariella D'Alessandro, Francesco Muntoni, Victor Dubowitz

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 438 KB

english, 1997

45

Tongue dyskinesia in Wilson disease

Topaloğlu, Haluk, Renda, Yavuz

Journal:

Brain and Development

Year:

1992

Language:

english

File:

PDF, 172 KB

english, 1992

46

Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor

Unal Gulsuner, Hilal, Gulsuner, Suleyman, Mercan, Fatma Nazli, Onat, Onur Emre, Walsh, Tom, Shahin, Hashem, Lee, Ming K., Dogu, Okan, Kansu, Tulay, Topaloglu, Haluk, Elibol, Bulent, Akbostanci, Cenk,

Journal:

Proceedings of the National Academy of Sciences

Year:

2015

Language:

english

File:

PDF, 536 KB

english, 2015

47

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Emre Onat, Onur, Gulsuner, Suleyman, Bilguvar, Kaya, Nazli Basak, Ayse, Topaloglu, Haluk, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 999 KB

english, 2013

48

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

49

Giant axonal neuropathy locus refinement to a &< 590 kb critical interval

Cavalier, Laurent, BenHamida, Christiane, Amouri, Rim, Belal, Samir, Bomont, Pascale, Lagarde, Nadège, Gressin, Laëtitia, Callen, David, Demir, Ercan, Topaloglu, Haluk

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 183 KB

english, 2000

50

A Hypotonic Infant With Tachycardia and Fever of Unknown Origin

S. Songül Yalçın, Eren Kale, Haluk Topaloğlu, Ergül Tunçbilek

Journal:

Journal of Pediatric Health Care

Year:

2007

Language:

english

File:

PDF, 98 KB

english, 2007

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