Topaloḡlu, Haluk: search on Z-Library

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51

88th ENMC International Workshop: Childhood chronic inflammatory demyelinating polyneuropathy (including revised diagnostic criteria), Naarden, The Netherlands, December 8–10, 2000

Yoram Nevo, Haluk Topaloǧlu

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

52

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

53

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

54

Calpain-3 mutations in Turkey

Burcu Balci, Stefania Aurino, Göknur Haliloglu, Beril Talim, Sevim Erdem, Zuhal Akcören, Ersin Tan, Melda Caglar, Isabelle Richard, Vincenzo Nigro, Haluk Topaloglu, Pervin Dincer

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 144 KB

english, 2006

55

PrivateSACSmutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Andrea M. Richter, Riza Koksal Ozgul, Virginie C. Poisson, Haluk Topaloglu

Journal:

Year:

2004

Language:

english

File:

PDF, 309 KB

english, 2004

56

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Kurth, Ingo, Pamminger, Torsten, Hennings, J Christopher, Soehendra, Désirée, Huebner, Antje K, Rotthier, Annelies, Baets, Jonathan, Senderek, Jan, Topaloglu, Haluk, Farrell, Sandra A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 524 KB

english, 2009

57

Peter S. Harper, Baziel G.M. van Engelen, Bruno Eymard, Douglax E. Wilcox,Editors, ,Myotonic dystrophy: present management, future therapy (2004) Oxford University Press 264pp, £65.00, Hardback, ISBN: 0-19-852782-9.

Haluk Topaloglu

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 59 KB

english, 2006

58

Paraneoplastic syndrome manifesting as chronic cerebellar ataxia in a child with Hodgkin disease

Meral Topcu, Kivilcim Gucuyener, Haluk Topaloglu, Yavuz Renda, Canan Akyuz, Gulsev Kale

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 266 KB

english, 1992

59

Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers

Volkan Seyrantepe, Gülsev Kale, Haluk Topaloǧlu, Ayfer Alikasifoǧlu, Meral Özgüc

Journal:

Brain and Development

Year:

1999

Language:

english

File:

PDF, 102 KB

english, 1999

60

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

61

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

Ute Hehr, Goekhan Uyanik, Claudia Gross, Maggie C. Walter, Axel Bohring, Monika Cohen, Barbara Oehl-Jaschkowitz, Lynne M. Bird, Ghiat M. Shamdeen, Ulrich Bogdahn, Gerhard Schuierer, Haluk Topaloglu, L

Journal:

Year:

2007

Language:

english

File:

PDF, 411 KB

english, 2007

62

Book reviews: Dystrophin (Gene, Protein and Cell Biology)

Haluk Topaloğlu

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 32 KB

english, 2000

63

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

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:

2014

Language:

english

File:

PDF, 1011 KB

english, 2014

64

The transcript levels of PLS3 and NRN1 modifier genes in SMA siblings

Yener, İ Hande, Topaloglu, Haluk, Erdem-Özdamar, Sevim, Dayangac-Erden, Didem

Journal:

Pediatrics International

Year:

2016

Language:

english

File:

PDF, 419 KB

english, 2016

65

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

66

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

67

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

68

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

Helbling-Leclerc, Anne, Zhang, Xu, Topaloglu, Haluk, Cruaud, Corinne, Tesson, Frédérique, Weissenbach, Jean, Tomé, Fernando M.S., Schwartz, Ketty, Fardeau, Michel, Tryggvason, Karl

Journal:

Nature Genetics

Year:

1995

File:

PDF, 315 KB

1995

69

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

Hulya Gundesli, Beril Talim, Petek Korkusuz, Burcu Balci-Hayta, Sebahattin Cirak, Nurten A. Akarsu, Haluk Topaloglu, Pervin Dincer

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 945 KB

english, 2010

70

Letter 6

Haluk Topaloglu

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

71

Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy

Naci Ceviz, Füsun Alehan, Dursun Alehan, Şencan Özme, Zuhal Akçören, Gülsev Kale, Haluk Topaloglu

Journal:

International Journal of Cardiology

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

72

Cystic Fibrosis Mutations and Associated Haplotypes in Turkish Cystic Fibrosis Patients

TUNCER ONAY, JULIAN ZIELENSKI, OZLEM TOPALOGLU, NALAN GOKGOZ, HULYA KAYSERILI, MEMNUNE YUKSEL APAK, YILDIZ CAMCIOGLU, HALUK COKUGRAS, NECLA AKCAKAYA, LAP-CHEE TSUI and BETUL KIRDAR

Journal:

Year:

2001

Language:

english

File:

PDF, 1.01 MB

english, 2001

73

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

74

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Isam Naom, Mariella D’Alessandro, Caroline Sewry, Alessandra Ferlini, Haluk Topaloglu, Anne Helbling-Leclerc, Pascale Guicheney, Ketty Schwartz, Zuhal Akcoren, Victor Dubowitz, F. Muntoni

Journal:

Year:

1997

Language:

english

File:

PDF, 387 KB

english, 1997

75

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

B. Fontaine, Sophie Nicole, Haluk Topaloglu, C. Ben Hamida, Peter Beighton, Frank Spaans, Jose M. A. Cantu, Salim Bakouri, Norma Romero, K. Ricker, Patricio Barros-Nunez, Gérard Ponsot, M. Ben Hamida,

Journal:

Year:

1996

Language:

english

File:

PDF, 46 KB

english, 1996

76

Heart disease in Friedreich's ataxia: A clinical and echocardiographic study

NAZLIHAN GÜNAL, MUHSIN SARAÇLAR, SÜHEYLA ÖZKUTLU, FILIZ ŞENOCAK, HALUK TOPALOǦLU, SEVIM KARAASLAN

Journal:

Pediatrics International

Year:

1996

Language:

english

File:

PDF, 367 KB

english, 1996

77

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

Pascale Guicheney, Nicolas Vignier, Anne Helbling-Leclerc, Marja Nissinen, Xu Zhang, Corrinne Cruaud, Jean-Claude Lambert, Christian Richelme, Haluk Topaloglu, Luciano Merlini, Annie Barois, Ketty Sch

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 667 KB

english, 1997

78

Effect of muscle weakness distribution on balance in neuromuscular disease

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

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 111 KB

english, 2015

79

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

80

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

Haluk Topaloğlu, Beril Talim, Nicolas Vignier, Anne Helbling-Leclerc, Mürüvet Yetük, I.Ethem Afşin, Melda Çağlar, Gülsev Kale, Pascale Guicheney

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 447 KB

english, 1998

81

Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome

Volkan Seyrantepe, Haluk Topaloğlu, Enver Şimşek, Meral Özgüç, Nurşen Yordam

Journal:

Year:

1996

Language:

english

File:

PDF, 341 KB

english, 1996

82

Unusual case of duchenne muscular dystrophy (DMD)

Topaloglu, Haluk, Dinçer, Pervin, Gögüs, Safiye, Ayter, Sükrüye, Topçu, Meral

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 125 KB

english, 1992

83

Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy

Balci-Hayta, Burcu, Talim, Beril, Dinçer, Pervin, Topaloğlu, Haluk

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

84

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

Wenli Zhang, Jiri Vajsar, Pinjiang Cao, Galen Breningstall, Charlotta Diesen, William Dobyns, Ralph Herrmann, Anna-Elina Lehesjoki, Alice Steinbrecher, Beril Talim, Tatsushi Toda, Haluk Topaloglu, Tho

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

85

Duchenne Muscular Dystrophy: Alan E.H. Emery, Francesco Muntoni, 3rd ed, Oxford University Press, 2003, 270 pages, hardback, £79.50, ISBN 0-19-851531-6

Haluk Topaloglu

Journal:

European Journal of Paediatric Neurology

Year:

2004

Language:

english

File:

PDF, 29 KB

english, 2004

86

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

Ulrike Schara, Hans-Jürgen Christen, Hacer Durmus, Marja Hietala, Kerstin Krabetz, Carmelo Rodolico, Gudrun Schreiber, Haluk Topaloglu, Beril Talim, Wolfgang Voss, Helena Pihko, Angela Abicht, Juliane

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 521 KB

english, 2010

87

Deletion analysis in Turkish patients with spinal muscular atrophy

Hayat Erdem, Sacide Pehlivan, Haluk Topaloǧlu, Meral Özgüç

Journal:

Brain and Development

Year:

1999

Language:

english

File:

PDF, 54 KB

english, 1999

88

Tremor of tongue and dysarthria as the sole manifestation of Wilson's disease

Topaloḡlu, Haluk, Gücüyener, Kivilcim, Orkun, Canan, Renda, Yavuz

Journal:

Clinical Neurology and Neurosurgery

Year:

1990

Language:

english

File:

PDF, 212 KB

english, 1990

89

Results of Botilinum Toxin

Vargel, Ibrahim, Canter, Halil Ibrahim, Topaloglu, Haluk, Erk, Yucel

Journal:

Journal of Craniofacial Surgery

Year:

2006

Language:

english

File:

PDF, 200 KB

english, 2006

90

A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: Are they an appropriate tool for drug screening?

Didem Dayangaç-Erden, Haluk Topaloğlu, Hayat Erdem-Yurter

Journal:

Advances in Therapy

Year:

2008

Language:

english

File:

PDF, 170 KB

english, 2008

91

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

Eva Nelis, Sevim Erdem, Ersin Tan, Ann Löfgren, Chantal Ceuterick, Peter De Jonghe, Christine Van Broeckhoven, Vincent Timmerman, Haluk Topaloglu

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 258 KB

english, 2002

92

The Muscular Dystrophies: Edited by Alan EH Emery Oxford University Press, Oxford, UK 2001, 316 pp. £69.50 [hardback] ISBN: 0192632914

HALUK TOPALOǦLU

Journal:

European Journal of Paediatric Neurology

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

93

Good clinical observation is essential before molecular studies

Haluk Topaloğlu, Ersin Tan, Pervin Dinçer, Sevim Erdem, Zuhal Akçören

Journal:

Year:

1995

Language:

english

File:

PDF, 144 KB

english, 1995

94

Optic neuritis and myelitis after booster tetanus toxoid vaccination

Topaloglu, Haluk, Berker, Mustafa, Kansu, Tulay, Saatci, Umit, Renda, Yavuz

Journal:

Year:

1992

Language:

english

File:

PDF, 433 KB

english, 1992

95

Carbamazepine induced systemic lupus erythematosus

Öner, Ayşe, Topaloğlu, Rezzan, Beşbaş, Nesrin, Topaloğlu, Haluk

Journal:

Clinical Neurology and Neurosurgery

Year:

1990

Language:

english

File:

PDF, 207 KB

english, 1990

96

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

Haliloglu, Goknur, Talim, Beril, Sel, Cigdem Genc, Topaloglu, Haluk

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 876 KB

english, 2015

97

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

98

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

99

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

100

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

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