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Haluk Topaloglu

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Disorders

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Chemicals & Drugs

Living Beings

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Turkey

Anatomy

Physiology

Genes & Molecular Sequences

Recessive Genes

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Publications

TOP 3
Jimenez-Mallebrera Cecilia; Torelli Silvia; Feng Lucy; Kim Jihee; Godfrey Caroline; Clement Emma; Mein Rachael; Abbs Stephen; Brown Susan C; Campbell Kevin P; Kröger Stephan; Talim Beril; Topaloglu Haluk; Quinlivan Ros; Roper Helen; Childs Anne M; Kinali Maria; Sewry Caroline A; Muntoni Francesco
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Cakmakli Gül; Kurne Asli; Güven Alev; Serdaroglu Ayse; Topaloglu Haluk; Teber Serap; Anlar Banu
Childhood optic neuritis: the pediatric neurologist's perspective.
Topaloglu Haluk
Abnormal glycosylation of the alpha-dystroglycan: deficient sugars are no good.

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All Publications

2009: Jimenez-Mallebrera Cecilia; Torelli Silvia; Feng Lucy; Kim Jihee; Godfrey Caroline; Clement Emma; Mein Rachael; Abbs Stephen; Brown Susan C; Campbell Kevin P; Kröger Stephan; Talim Beril; Topaloglu Haluk; Quinlivan Ros; Roper Helen; Childs Anne M; Kinali Maria; Sewry Caroline A; Muntoni Francesco
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Brain pathology (Zurich, Switzerland) 2009;19(4):596-611.
2009: Cakmakli Gül; Kurne Asli; Güven Alev; Serdaroglu Ayse; Topaloglu Haluk; Teber Serap; Anlar Banu
Childhood optic neuritis: the pediatric neurologist's perspective.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(5):452-7.
2009: Topaloglu Haluk
Abnormal glycosylation of the alpha-dystroglycan: deficient sugars are no good.
Neurology 2009;72(21):1798-9.
2009: Boybeyi Ozlem; Ciftçi Arbay Ozden; Topaloglu Haluk
An unusual presentation of gastrointestinal obstruction in a three-year-old boy.
The Turkish journal of pediatrics 2009;51(2):195-8.
2008: Lehtokari Vilma-Lotta; Pelin Katarina; Donner Kati; Voit Thomas; Rudnik-Schöneborn Sabine; Stoetter Mechthild; Talim Beril; Topaloglu Haluk; Laing Nigel G; Wallgren-Pettersson Carina
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
European journal of human genetics : EJHG 2008;16(9):1055-61.
2008: Dayangaç-Erden Didem; Topaloglu Haluk; Erdem-Yurter Hayat
A preliminary report on spinal muscular atrophy lymphoblastoid cell lines: are they an appropriate tool for drug screening?
Advances in therapy 2008;25(3):274-9.
2008: Manya Hiroshi; Bouchet Céline; Yanagisawa Akiko; Vuillaumier-Barrot Sandrine; Quijano-Roy Susana; Suzuki Yasushi; Maugenre Svetlana; Richard Pascale; Inazu Toshiyuki; Merlini Luciano; Romero Norma B; Leturcq France; Bezier Isabelle; Topaloglu Haluk; Estournet Brigitte; Seta Nathalie; Endo Tamao; Guicheney Pascale
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
2007: Hehr Ute; Bauer Peter; Winner Beate; Schule Rebecca; Olmez Akguen; Koehler Wolfgang; Uyanik Goekhan; Engel Anna; Lenz Daniela; Seibel Andrea; Hehr Andreas; Ploetz Sonja; Gamez Josep; Rolfs Arndt; Weis Joachim; Ringer Thomas M; Bonin Michael; Schuierer Gerhard; Marienhagen Joerg; Bogdahn Ulrich; Weber Bernhard H F; Topaloglu Haluk; Schols Ludger; Riess Olaf; Winkler Juergen
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Annals of neurology 2007;62(6):656-65.
2007: Hehr Ute; Uyanik Goekhan; Gross Claudia; Walter Maggie C; Bohring Axel; Cohen Monika; Oehl-Jaschkowitz Barbara; Bird Lynne M; Shamdeen Ghiat M; Bogdahn Ulrich; Schuierer Gerhard; Topaloglu Haluk; Aigner Ludwig; Lochmüller Hanns; Winkler Jürgen
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Neurogenetics 2007;8(4):279-88.
2007: Godfrey Caroline; Clement Emma; Mein Rachael; Brockington Martin; Smith Janine; Talim Beril; Straub Volker; Robb Stephanie; Quinlivan Ros; Feng Lucy; Jimenez-Mallebrera Cecilia; Mercuri Eugenio; Manzur Adnan Y; Kinali Maria; Torelli Silvia; Brown Susan C; Sewry Caroline A; Bushby Kate; Topaloglu Haluk; North Kathryn; Abbs Stephen; Muntoni Francesco
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2007: Yalçin S Songül; Kale Eren; Topaloglu Haluk; Tunçbilek Ergül
A hypotonic infant with tachycardia and fever of unknown origin.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2007;21(2):115-6, 136-8.
2007: Balci Burcu; Morris-Rosendahl Deborah J; Celebi Asli; Talim Beril; Topaloglu Haluk; Dinçer Pervin
Prenatal diagnosis of muscle-eye-brain disease.
Prenatal diagnosis 2007;27(1):51-4.
2007: Topaloglu Haluk; Talim Beril
Lissencephaly type II.
Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2007;87():219-34.
2006: Balci Burcu; Aurino Stefania; Haliloglu Göknur; Talim Beril; Erdem Sevim; Akcören Zuhal; Tan Ersin; Caglar Melda; Richard Isabelle; Nigro Vincenzo; Topaloglu Haluk; Dincer Pervin
Calpain-3 mutations in Turkey.
European journal of pediatrics 2006;165(5):293-8.
2006: Olmez A; Uyanik G; Ozgül R K; Gross C; Cirak S; Elibol B; Anlar B; Winner B; Hehr U; Topaloglu H; Winkler J
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
Neuropediatrics 2006;37(2):59-66.
2006: Uyanik G; Elcioglu N; Penzien J; Gross C; Yilmaz Y; Olmez A; Demir E; Wahl D; Scheglmann K; Winner B; Bogdahn U; Topaloglu H; Hehr U; Winkler J
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
Neurology 2006;66(7):1044-8.
2006: Turanli Güzide; Celebi Asli; Yalnizoglu Dilek; Topçu Meral; Topaloglu Haluk; Banu Anlar; Aysun Sabiha
Vigabatrin in pediatric patients with refractory epilepsy.
The Turkish journal of pediatrics 2006;48(1):25-30.
2005: Senderek Jan; Krieger Michael; Stendel Claudia; Bergmann Carsten; Moser Markus; Breitbach-Faller Nico; Rudnik-Schöneborn Sabine; Blaschek Astrid; Wolf Nicole I; Harting Inga; North Kathryn; Smith Janine; Muntoni Francesco; Brockington Martin; Quijano-Roy Susana; Renault Francis; Herrmann Ralf; Hendershot Linda M; Schröder J Michael; Lochmüller Hanns; Topaloglu Haluk; Voit Thomas; Weis Joachim; Ebinger Friedrich; Zerres Klaus
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscular disorders : NMD 2005;15(9-10):588-94.
2005: Piluso G; Politano L; Aurino S; Fanin M; Ricci E; Ventriglia V M; Belsito A; Totaro A; Saccone V; Topaloglu H; Nascimbeni A C; Fulizio L; Broccolini A; Canki-Klain N; Comi L I; Nigro G; Angelini C; Nigro V
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Journal of medical genetics 2005;42(9):686-93.
2005: D'Amico A; Haliloglu G; Richard P; Talim B; Maugenre S; Ferreiro A; Guicheney P; Menditto I; Benedetti S; Bertini E; Bonne G; Topaloglu H
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscular disorders : NMD 2005;15(8):521-4.
2005: Sellick G S; Longman C; Brockington M; Mahjneh I; Sagi L; Bushby K; Topaloglu H; Muntoni F; Houlston R S
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics 2005;117(2-3):207-12.
2005: Demir E; Bomont P; Erdem S; Cavalier L; Demirci M; Kose G; Muftuoglu S; Cakar A N; Tan E; Aysun S; Topcu M; Guicheney P; Koenig M; Topaloglu H
Giant axonal neuropathy: clinical and genetic study in six cases.
Journal of neurology, neurosurgery, and psychiatry 2005;76(6):825-32.
2005: Balci Burcu; Uyanik Gökhan; Dincer Pervin; Gross Claudia; Willer Tobias; Talim Beril; Haliloglu Göknur; Kale Gülsev; Hehr Ute; Winkler Jürgen; Topaloglu Haluk
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Neuromuscular disorders : NMD 2005;15(4):271-5.
2005: Topçu Meral; Aydin Omer Faruk; Yalçinkaya Cengiz; Haliloglu Göknur; Aysun Sabiha; Anlar Banu; Topaloglu Haluk; Turanli Güzide; Yalnizoglu Dilek; Kesimer Mehmet; Coskun Turgay
L-2-hydroxyglutaric aciduria: a report of 29 patients.
The Turkish journal of pediatrics 2005;47(1):1-7.
2004: Balci B; Wilichowski E; Haliloglu G; Talim B; Aurino S; Kremer E; Ebinger F; Senbil N; Anlar B; Kale G; Nigro V; Topaloglu H; Bonnemann C; Dinçer P
Beta-sarcoglycan gene mutations in Turkey.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2004;23(3):154-8.
2004: Haliloglu G; Gross C; Senbil N; Talim B; Hehr U; Uyanik G; Winkler J; Topaloglu H
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2004;23(3):137-9.
2004: Haliloglu Göknur; Topaloglu Haluk
Glycosylation defects in muscular dystrophies.
Current opinion in neurology 2004;17(5):521-7.
2004: Yilmaz O; Karaduman A; Topaloglu H
Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2004;11(8):541-4.
2004: Kalkanoglu H Serap; Dursun Ali; Tokatli Aysegül; Coskun Turgay; Karasimav Defne; Topaloglu Haluk
A boy with spastic paraparesis and dyspnea.
Journal of child neurology 2004;19(5):397-8.
2004: Demir E; Ferreiro A; Sabatelli P; Allamand V; Makri S; Echenne B; Maraldi M; Merlini L; Topaloglu H; Guicheney P
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
Neuropediatrics 2004;35(2):103-12.
2004: Topçu Meral; Yalnizoglu Dilek; Saatçi Isil; Haliloglu Göknur; Topaloglu Haluk; Senbil Nesrin; Onol Saniye; Coskun Turgay
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly.
The Turkish journal of pediatrics 2004;46(1):67-71.
2004: Topçu Meral; Tan Hüseyin; Yalnizoglu Dilek; Usubütün Alp; Saatçi Isil; Aynaci Müjgan; Anlar Banu; Topaloglu Haluk; Turanli Güzide; Köse Gülsen; Aysun Sabiha
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
The Turkish journal of pediatrics 2004;46(1):1-10.
2003: Dinçer Pervin; Balci Burcu; Yuva Yeliz; Talim Beril; Brockington Martin; Dinçel Deniz; Torelli Silvia; Brown Sue; Kale Gülsev; Haliloglu Göknur; Gerçeker Filiz Ozbas; Atalay Rengül Cetin; Yakicier Cengiz; Longman Cheryl; Muntoni Francesco; Topaloglu Haluk
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Neuromuscular disorders : NMD 2003;13(10):771-8.
2003: Muntoni F; Valero de Bernabe B; Bittner R; Blake D; van Bokhoven H; Brockington M; Brown S; Bushby K; Campbell K P; Fiszman M; Gruenewald S; Merlini L; Quijano-Roy S; Romero N; Sabatelli P; Sewry C A; Straub V; Talim B; Topaloglu H; Voit T; Yurchenco P D; Urtizberea J A; Wewer U M; Guicheney P
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscular disorders : NMD 2003;13(7-8):579-88.
2003: Aynaci Fatma Müjgan; Ozdirim Emire; Saatçi Isil; Genç Demet; Topçu Meral; Turanli Güzide; Topaloglu Haluk; Aysun Sabiha
Clinical, electrophysiological and neuropsychological findings of twenty-two children with mesial temporal sclerosis.
The Turkish journal of pediatrics 2003;45(3):221-30.
2003: Topaloglu H; Brockington M; Yuva Y; Talim B; Haliloglu G; Blake D; Torelli S; Brown S C; Muntoni F
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
2003: Ceviz Naci; Alehan Füsun; Alehan Dursun; Ozme Sencan; Akçören Zuhal; Kale Gülsev; Topaloglu Haluk
Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy.
International journal of cardiology 2003;87(2-3):129-33; discussion 133-4.
2003: Demir Ercan; Irobi Joy; Erdem Sevim; Demirci Mehmet; Tan Ersin; Timmerman Vincent; De Jonghe Peter; Topaloglu Haluk
Andermann syndrome in a Turkish patient.
Journal of child neurology 2003;18(1):76-9.
2002: Haliloglu G; Chattopadhyay A; Skorodis L; Manzur A; Mercuri E; Talim B; Akçören Z; Renda Y; Muntoni F; Topaloglu H
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.
Neuropediatrics 2002;33(6):314-9.
2002: Pepe Guglielmina; Bertini Enrico; Bonaldo Paolo; Bushby Kate; Giusti Betti; de Visser Marianne; Guicheney Pascale; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Nishino Ichizo; Nonaka Ikuya; Yaou Rabah Ben; Sabatelli Patrizia; Sewry Caroline; Topaloglu Haluk; van der Kooi Anneke
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(10):984-93.
2002: Muntoni F; Bertini E; Bönnemann C; Brockington M; Brown S; Bushby K; Fiszman M; Körner C; Mercuri E; Merlini L; Hewitt J; Quijano-Roy S; Romero N; Squarzoni S; Sewry C A; Straub V; Topaloglu H; Haliloglu G; Voit T; Wewer U; Guicheney P
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(9):889-96.
2002: Wallgren-Pettersson Carina; Donner Kati; Sewry Caroline; Bijlsma Emilia; Lammens Martin; Bushby Kate; Giovannucci Uzielli Maria Luisa; Lapi Elisabetta; Odent Sylvie; Akcoren Zuhal; Topaloglu Haluk; Pelin Katarina
Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
Neuromuscular disorders : NMD 2002;12(7-8):674-9.
2002: Demir Ercan; Sabatelli Patrizia; Allamand Valérie; Ferreiro Ana; Moghadaszadeh Behzad; Makrelouf Mohamed; Topaloglu Haluk; Echenne Bernard; Merlini Luciano; Guicheney Pascale
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
American journal of human genetics 2002;70(6):1446-58.
2002: Haliloglu Goknur; Anlar Banu; Aysun Sabiha; Topcu Meral; Topaloglu Haluk; Turanli Guzide; Yalnizoglu Dilek
Gender prevalence in childhood multiple sclerosis and myasthenia gravis.
Journal of child neurology 2002;17(5):390-2.
2001: Moghadaszadeh B; Petit N; Jaillard C; Brockington M; Roy S Q; Merlini L; Romero N; Estournet B; Desguerre I; Chaigne D; Muntoni F; Topaloglu H; Guicheney P
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: Gücüyener K; Ozgül K; Paternotte C; Erdem H; Prud'homme J F; Ozgüç M; Topaloglu H
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
Neuropediatrics 2001;32(3):142-6.
2001: Dogulu C F; Kansu T; Seyrantepe V; Ozguc M; Topaloglu H; Johns D R
Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population.
Eye (London, England) 2001;15(Pt 2):183-8.
2001: Cormand B; Pihko H; Bayés M; Valanne L; Santavuori P; Talim B; Gershoni-Baruch R; Ahmad A; van Bokhoven H; Brunner H G; Voit T; Topaloglu H; Dobyns W B; Lehesjoki A E
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Neurology 2001;56(8):1059-69.
2001: Erdem H; Dayangaç D; Pehlivan S; Topaloglu H
Prenatal diagnosis of spinal muscular atrophy in Turkish families.
Central European journal of public health 2001;9(1):35-7.
2001: Oto A; Aydingöz U; Basgün N; Talim B; Karaagaoglu E; Topaloglu H
MR imaging of pelvic and thigh muscles in congenital muscular dystrophy.
The Turkish journal of pediatrics 2001;43(1):44-51.
2000: Talim B; Ferreiro A; Cormand B; Vignier N; Oto A; Gögüs S; Cila A; Lehesjoki A E; Pihko H; Guicheney P; Topaloglu H
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
Neuromuscular disorders : NMD 2000;10(8):548-52.
2000: Bomont P; Cavalier L; Blondeau F; Ben Hamida C; Belal S; Tazir M; Demir E; Topaloglu H; Korinthenberg R; Tüysüz B; Landrieu P; Hentati F; Koenig M
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Nature genetics 2000;26(3):370-4.
2000: Cavalier L; BenHamida C; Amouri R; Belal S; Bomont P; Lagarde N; Gressin L; Callen D; Demir E; Topaloglu H; Landrieu P; Ioos C; Hamida M B; Koenig M; Hentati F
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
European journal of human genetics : EJHG 2000;8(7):527-34.
2000: Seyrantepe V; Topaloglu H
Diagnosis of quantitative mitochondrial DNA defects by rapidly prepared whole mitochondrial DNA probe.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2000;9(2):81-3.
2000: Dinçer P; Akçören Z; Demir E; Richard I; Sancak O; Kale G; Ozme S; Karaduman A; Tan E; Urtizberea J A; Beckmann J S; Topaloglu H
A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.
Journal of medical genetics 2000;37(5):361-7.
2000: Talim B; Kale G; Topaloglu H; Akçören Z; Caglar M; Gögüs S; Elkay M
Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2000;3(2):168-76.
2000: Brockington M; Sewry C A; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
American journal of human genetics 2000;66(2):428-35.
1999: Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé F M; Guicheney P
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: Seyrantepe V; Kale G; Topaloglu H; Alikasifoglu A; Ozgüc M
Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers.
Brain & development 1999;21(6):413-5.
1999: Richard I; Roudaut C; Saenz A; Pogue R; Grimbergen J E; Anderson L V; Beley C; Cobo A M; de Diego C; Eymard B; Gallano P; Ginjaar H B; Lasa A; Pollitt C; Topaloglu H; Urtizberea J A; de Visser M; van der Kooi A; Bushby K; Bakker E; Lopez de Munain A; Fardeau M; Beckmann J S
Calpainopathy-a survey of mutations and polymorphisms.
American journal of human genetics 1999;64(6):1524-40.
1999: Alikasifoglu M; Topaloglu H; Tunçbilek E; Ceviz N; Anar B; Demir E; Ozme S
Clinical and genetic correlate in childhood onset Friedreich ataxia.
Neuropediatrics 1999;30(2):72-6.
1999: Erdem H; Pehlivan S; Topaloglu H; Ozgüç M
Deletion analysis in Turkish patients with spinal muscular atrophy.
Brain & development 1999;21(2):86-9.
1999: Apak R A; Köse G; Anlar B; Turanli G; Topaloglu H; Ozdirim E
Acute disseminated encephalomyelitis in childhood: report of 10 cases.
Journal of child neurology 1999;14(3):198-201.
1999: Cormand B; Avela K; Pihko H; Santavuori P; Talim B; Topaloglu H; de la Chapelle A; Lehesjoki A E
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
American journal of human genetics 1999;64(1):126-35.
1998: Dinçer P; Piccolo F; Leturcq F; Kaplan J C; Jeanpierre M; Topaloglu H
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.
Prenatal diagnosis 1998;18(12):1300-3.
1998: Topaloglu H; Pinarli G; Erdem H; Gücüyener K; Karaduman A; Topçu M; Akarsu A N; Ozgüç M
Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.
Neuropediatrics 1998;29(4):189-94.
1998: Dinçer P; Topaloglu H; Ayter S
DNA diagnostic tests in Xp21 dystrophy families for prenatal diagnosis.
The Turkish journal of pediatrics 1998;40(3):347-55.
1998: Moghadaszadeh B; Desguerre I; Topaloglu H; Muntoni F; Pavek S; Sewry C; Mayer M; Fardeau M; Tomé F M; Guicheney P
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
American journal of human genetics 1998;62(6):1439-45.
1998: Topaloglu H; Seyrantepe V; Kandemir N; Akçören Z; Ozgüç M
mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.
Pediatric neurology 1998;18(5):429-31.
1998: Topaloglu H; Talim B; Vignier N; Helbling-Leclerc A H; Yetük M; Afsin I E; Caglar M; Kale G; Guicheney P
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.
Neuromuscular disorders : NMD 1998;8(3-4):169-74.
1998: Guicheney P; Vignier N; Zhang X; He Y; Cruaud C; Frey V; Helbling-Leclerc A; Richard P; Estournet B; Merlini L; Topaloglu H; Mora M; Harpey J P; Haenggeli C A; Barois A; Hainque B; Schwartz K; Tomé F M; Fardeau M; Tryggvason K
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Journal of medical genetics 1998;35(3):211-7.
1997: Erdem H; Pehlivan S; Topaloglu H; Togan I; Ozgüç M
Allele distribution of D5S125, MAP1B5' and D5S679 microsatellite markers in Turkish spinal muscular atrophy families.
The Turkish journal of pediatrics 1997;39(4):447-52.
1997: Topaloglu H; Dinçer P; Richard I; Akçören Z; Alehan D; Ozme S; Caglar M; Karaduman A; Urtizberea J A; Beckmann J S
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
Neuropediatrics 1997;28(4):212-6.
1997: Dinçer P; Leturcq F; Richard I; Piccolo F; Yalnizoglu D; de Toma C; Akçören Z; Broux O; Deburgrave N; Brenguier L; Roudaut C; Urtizberea J A; Jung D; Tan E; Jeanpierre M; Campbell K P; Kaplan J C; Beckmann J S; Topaloglu H
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Annals of neurology 1997;42(2):222-9.
1997: Tasdemir H A; Topaloglu H; Dinçer P; Gögüs S; Kotiloglu E; Ozdirim E; Yalaz K
Correlation of laboratory and clinical findings with the location of Xp21 deletion in Duchenne muscular dystrophy.
The Turkish journal of pediatrics 1997;39(3):317-24.
1997: Guicheney P; Vignier N; Helbling-Leclerc A; Nissinen M; Zhang X; Cruaud C; Lambert J C; Richelme C; Topaloglu H; Merlini L; Barois A; Schwartz K; Tomé F M; Tryggvason K; Fardeau M
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Neuromuscular disorders : NMD 1997;7(3):180-6.
1997: Naom I; Sewry C; D'Alessandro M; Topaloglu H; Ferlini A; Wilson L; Dubowitz V; Muntoni F
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 1997;7(3):176-9.
1997: Richard I; Brenguier L; Dinçer P; Roudaut C; Bady B; Burgunder J M; Chemaly R; Garcia C A; Halaby G; Jackson C E; Kurnit D M; Lefranc G; Legum C; Loiselet J; Merlini L; Nivelon-Chevallier A; Ollagnon-Roman E; Restagno G; Topaloglu H; Beckmann J S
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
American journal of human genetics 1997;60(5):1128-38.
1997: Naom I; D'Alessandro M; Sewry C; Ferlini A; Topaloglu H; Helbling-Leclerc A; Guicheney P; Schwartz K; Akcoren Z; Dubowitz V; Muntoni F
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.
Human genetics 1997;99(4):535-40.
1997: Tan E; Topaloglu H; Sewry C; Zorlu Y; Naom I; Erdem S; D'Alessandro M; Muntoni F; Dubowitz V
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.
Neuromuscular disorders : NMD 1997;7(2):85-9.
1997: Naom I S; D'Alessandro M; Topaloglu H; Sewry C; Ferlini A; Helbling-Leclerc A; Guicheney P; Weissenbach J; Schwartz K; Bushby K; Philpot J; Dubowitz V; Muntoni F
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
Journal of medical genetics 1997;34(2):99-104.
1997: Topaloglu H; Muntoni F; Dubowitz V; Sewry C
Expression of HLA class I antigens in skeletal muscle is a diagnostic marker in juvenile dermatomyositis.
Journal of child neurology 1997;12(1):60-3.
1997: Topaloglu H; Yetük M; Talim B; Akçören Z; Caglar M
Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1997;1(4):127-31.
1997: Kanra G; Ozon A; Vajsar J; Castagna L; Secmeer G; Topaloglu H
Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1997;1(1):7-12.
1996: Beckmann J S; Richard I; Broux O; Fougerousse F; Allamand V; Chiannilkulchai N; Lim L E; Duclos F; Bourg N; Brenguier L; Pasturaud P; Quétier F; Roudaut C; Sunada Y; Meyer J; Dinçer P; Lefranc G; Merlini L; Topaloglu H; Tomé F M; Cohen D; Jackson C E; Campbell K P; Fardeau M
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Neuromuscular disorders : NMD 1996;6(6):455-62.
1996: Kükner S; Gürer Y; Saatçi I; Akçören Z; Topaloglu H
Laminin-alpha 2 chain (merosin M) is preserved in the Walker-Warburg syndrome.
Neuropediatrics 1996;27(5):279-80.
1996: Fontaine B; Nicole S; Topaloglu H; Ben Hamida C; Beighton P; Spaans F; Cantu J M; Bakouri S; Romero N; Ricker K; Barros-Nunez P; Ponsot G; Ben Hamida M; Weissenbach J; Hentati F; Lehmann-Horn F
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.
Human genetics 1996;98(3):380-5.
1996: Günal N; Saraçlar M; Ozkutlu S; Senocak F; Topaloglu H; Karaaslan S
Heart disease in Friedreich's ataxia: a clinical and echocardiographic study.
Acta paediatrica Japonica; Overseas edition 1996;38(4):308-11.
1996: Tasdemir H A; Kotiloglu E; Topaloglu H; Kale G; Dinçer D P; Yalaz K; Renda Y
Functional significance of dystrophin-positive fibers in Duchenne and Becker muscular dystrophy.
Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association 1996;16(4):583-90.
1996: Tasdemir H A; Cil E; Topaloglu H; Yalaz K; Aysun S; Renda Y; Ozme S
Cardiorespiratory function in Duchenne and Becker muscular dystrophy.
The Turkish journal of pediatrics 1996;38(3):307-14.
1996: Anlar B; Ozdirim E; Renda Y; Yalaz K; Aysun S; Topçu M; Topaloglu H
Myasthenia gravis in childhood.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(7):838-42.
1996: Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé F M; Schwartz K; Tryggvason K; Guicheney P
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
American journal of human genetics 1996;58(6):1177-84.
1996: Serdaroglu A; Kotiloglu E; Caglar M; Topaloglu H
Dystrophinopathy in isolated female patients with muscular dystrophy.
Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association 1996;16(3):393-402.
1996: Dinçer P; Topaloglu H; Ayter S; Ozgüç M; Tasdemir H A; Renda Y
Molecular deletion patterns in Turkish Duchenne and Becker muscular dystrophy patients.
Brain & development 1996;18(2):91-4.
1996: Seyrantepe V; Topaloglu H; Simsek E; Ozguc M; Yordam N
Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome.
Lancet 1996;347(9002):695-6.
1996: Erdem H; Pehlivan S; Topaloglu H; Yalnizoglu D; Akçören Z
Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.
Journal of inherited metabolic disease 1996;19(6):724-8.
1995: Helbling-Leclerc A; Topaloglu H; Tomé F M; Sewry C; Gyapay G; Naom I; Muntoni F; Dubowitz V; Barois A; Estournet B
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1995;318(12):1245-52.
1995: Topaloglu H; Tan E; Dinçer P; Erdem S; Akçören Z
Good clinical observation is essential before molecular studies.
Lancet 1995;346(8988):1490.
1995: Helbling-Leclerc A; Zhang X; Topaloglu H; Cruaud C; Tesson F; Weissenbach J; Tomé F M; Schwartz K; Fardeau M; Tryggvason K
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
Nature genetics 1995;11(2):216-8.
1995: Topaloglu H; Cila A; Tasdemir A H; Saatçi I
Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases.
Brain & development 1995;17(4):271-5.
1995: Philpot J; Topaloglu H; Pennock J; Dubowitz V
Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy.
Neuromuscular disorders : NMD 1995;5(3):227-31.
1994: Yordam N; Kandemir N; Topaloglu H; Gögüs S; Küçükali T
Myositis associated with growth hormone therapy.
The Journal of pediatrics 1994;125(4):671.
1994: Hillaire D; Leclerc A; Fauré S; Topaloglu H; Chiannilkulchaï N; Guicheney P; Grinas L; Legos P; Philpot J; Evangelista T
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Human molecular genetics 1994;3(9):1657-61.
1994: Cil E; Topaloglu H; Caglar M; Ozme S
Left ventricular structure and function by echocardiography in congenital muscular dystrophy.
Brain & development 1994;16(4):301-3.
1994: Ozön A; Topaloglu H; Cila A; Günay M; Cetin M
Acute ascending myelitis and encephalopathy after intrathecal cytosine arabinoside and methotrexate in an adolescent boy with acute lymphoblastic leukemia.
Brain & development 1994;16(3):246-8.
1994: Topaloglu H; Gögüs S; Yalaz K; Kücükali T; Serdaroglu A
Two siblings with nemaline myopathy presenting with rigid spine syndrome.
Neuromuscular disorders : NMD 1994;4(3):263-7.
1994: Topaloglu H; Kale G; Yalnizoglu D; Tasdemir A H; Karaduman A; Topçu M; Kotiloglu E
Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?
Neuropediatrics 1994;25(2):94-100.
1994: Erdem G; Topçu M; Topaloglu H; Bertan V; Arikan U
Dermoid tumor with persistently low CSF glucose and unusual CT and MRI findings.
Pediatric neurology 1994;10(1):75-7.
1994: Aysun S; Topçu M; Günay M; Topaloglu H
Neurologic features as initial presentations of childhood malignancies.
Pediatric neurology 1994;10(1):40-3.
1994: Erdem E; Kiratli H; Erbas T; Varli K; Eldem B; Akalin S; Tan E; Topaloglu H; Gedikoglu G
Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association.
Clinical neurology and neurosurgery 1994;96(1):86-91.
1993: Topaloglu H; Serdaroglu A; Okan M; Gücüyener K; Topçu M
Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome.
Neuropediatrics 1993;24(4):232-4.
1993: Topaloglu H; Dinçer P; Gögüs S; Ayter S; Topçu M
An unusual case of Duchenne muscular dystrophy.
Brain & development 1993;15(4):313-5.
1993: Yurdakök M; Haziroglu R; Topaloglu H
Fetal thymus development in vitamin D deficient rats.
The Turkish journal of pediatrics 1993;35(3):197-9.
1993: Yurdakök M; Haziroglu R; Topaloglu H; Tinaztepe K
Pulmonary dysplasia with renal malformations: a common connective tissue disorder?
The Turkish journal of pediatrics 1993;35(2):111-4.
1993: Erdem H; Ayter S; Ozgüç M; Topçu M; Topaloglu H; Renda Y
Deletion analysis of Duchenne muscular dystrophy.
The Turkish journal of pediatrics 1993;35(1):15-21.
1992: Yalaz K; Topaloglu H; Aksu M; Gucuyener K; Topcu M
A predominantly cervical form of spinal muscular atrophy.
Journal of neurology, neurosurgery, and psychiatry 1992;55(6):523.
1992: Topaloglu H; Gücüyener K; Yalaz K; Renda Y; Topçu M; Aysun S; Ozdirim E; Anlar B
Selective involvement of the quadriceps muscle in congenital muscular dystrophies: an ultrasonographic study.
Brain & development 1992;14(2):84-7.
1992: Topcu M; Gucuyener K; Topaloglu H; Renda Y; Akyuz C; Kale G
Paraneoplastic syndrome manifesting as chronic cerebellar ataxia in a child with Hodgkin disease.
The Journal of pediatrics 1992;120(2 Pt 1):275-7.
1991: Gücüyener K; Aysun S; Topaloglu H; Inan L; Varli K
Monomelic amyotrophy in siblings.
Pediatric neurology 1991;7(3):220-2.
1991: Topaloglu H; Yalaz K; Renda Y; Caglar M; Gögüs S; Kale G; Gücüyener K; Nurlu G
Occidental type cerebromuscular dystrophy: a report of eleven cases.
Journal of neurology, neurosurgery, and psychiatry 1991;54(3):226-9.
1991: Topçu M; Topaloglu H; Renda Y; Berker M; Turanli G
The Rett syndrome in males.
Brain & development 1991;13(1):62.
1990: Yalaz K; Topçu M; Topaloglu H; Gürçay O; Ozcan O E; Onol B; Renda Y
N-acetylaspartic aciduria in Canavan disease: another proof in two infants.
Neuropediatrics 1990;21(3):140-2.
1990: Topaloglu H; Renda Y; Gögüs S; Benli S; Nurlu G; Yildirim M
Fukuyama type congenital muscular dystrophy in a Turkish child.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1990;17(2):149-50.
1990: Topaloglu H; Yalaz K; Kale G; Ergin M
Congenital muscular dystrophy with cerebral involvement--report of a case of "occidental type cerebromuscular dystrophy"?
Neuropediatrics 1990;21(1):53-4.
1990: Topaloglu H; Gücüyener K; Orkun C; Renda Y
Tremor of tongue and dysarthria as the sole manifestation of Wilson's disease.
Clinical neurology and neurosurgery 1990;92(3):295-6.
1990: Oner A; Topaloglu R; Besbas N; Topaloglu H
Carbamazepine induced systemic lupus erythematosus. Another warning.
Clinical neurology and neurosurgery 1990;92(3):261-2.
1989: Yurdakök M; Topaloglu H; Haziroglu R
Effect of D-penicillamine on the fetal lung of rats: a model for congenital emphysema.
The Turkish journal of pediatrics 1989;31(3):221-5.
1989: Yurdakök M; Topaloglu H; Haziroglu R
The effect of D-penicillamine in the developing rat cerebellum.
The Turkish journal of pediatrics 1989;31(2):137-43.
1989: Topaloglu H; Renda Y; Kale G; Gucuyener K
Muscular dystrophy or spinal muscular atrophy?
Lancet 1989;1(8644):960-1.
1989: Topaloglu H; Yalaz K; Renda Y; Kale G; Caglar M; Gögüs S
Congenital muscular dystrophy (non-Fukuyama type) in Turkey: a clinical and pathological evaluation.
Brain & development 1989;11(5):341-4.

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