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Haluk Topaloglu

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TOP 3
Goknur Haliloglu; Haluk Topaloglu
Arthrogryposis and fetal hypomobility syndrome.
Jie Zhou; Flora Nolent; Yavuz Renda; Serenella Servidei; Marcel Tawk; Francesco Danilo Tiziano; Haluk Topaloglu; Julien Veillet; Nathalie Andrieu-Abadie; Monica Bayes; Enrico Bertini; Stéphane Carpentier; Francesc Castro-Giner; Virginie Garcia; Ivo Gut; Thierry Levade; Judith Melki
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Hulya Gundesli; Beril Talim; Petek Korkusuz; Burcu Balci-Hayta; Sebahattin Cirak; Nurten A Akarsu; Haluk Topaloglu; Pervin Dincer
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

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All Publications

2013: Goknur Haliloglu; Haluk Topaloglu
Arthrogryposis and fetal hypomobility syndrome.
Handbook of clinical neurology 2013;113():1311-9.
2012: Jie Zhou; Flora Nolent; Yavuz Renda; Serenella Servidei; Marcel Tawk; Francesco Danilo Tiziano; Haluk Topaloglu; Julien Veillet; Nathalie Andrieu-Abadie; Monica Bayes; Enrico Bertini; Stéphane Carpentier; Francesc Castro-Giner; Virginie Garcia; Ivo Gut; Thierry Levade; Judith Melki
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
American journal of human genetics 2012;91(1):5-14.
2010: Hulya Gundesli; Beril Talim; Petek Korkusuz; Burcu Balci-Hayta; Sebahattin Cirak; Nurten A Akarsu; Haluk Topaloglu; Pervin Dincer
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
American journal of human genetics 2010;87(6):834-41.
2010: Haluk Topaloglu
Best practice in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 2010;20(3):218; author reply 218-9.
2009: Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Jihee Kim; Caroline Godfrey; Emma Clement; Rachael Mein; Stephen Abbs; Susan C Brown; Kevin P Campbell; Stephan Kröger; Beril Talim; Haluk Topaloglu; Ros Quinlivan; Helen Roper; Anne M Childs; Maria Kinali; Caroline A Sewry; Francesco Muntoni
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: Haluk Topaloglu
Abnormal glycosylation of the alpha-dystroglycan: deficient sugars are no good.
Neurology 2009;72(21):1798-9.
2008: Vilma-Lotta Lehtokari; Katarina Pelin; Kristian Donner; Thomas Voit; Sabine Rudnik-Schöneborn; Mechthild Stoetter; Beril Talim; Haluk Topaloglu; Nigel G Laing; Carina Wallgren-Pettersson
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: Hiroshi Manya; Céline Bouchet; Akiko Yanagisawa; Sandrine Vuillaumier-Barrot; Susana Quijano-Roy; Yasushi Suzuki; Svetlana Maugenre; Pascale Richard; Toshiyuki Inazu; Luciano Merlini; Norma B Romero; France Leturcq; Isabelle Bezier; Haluk Topaloglu; Brigitte Estournet; Nathalie Seta; Tamao Endo; Pascale Guicheney
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
2007: Ute Hehr; Peter Bauer; Beate Winner; Rebecca Schüle; Akgün Olmez; Wolfgang Koehler; Gökhan Uyanik; Anna Engel; Daniela Lenz; Andrea Seibel; Andreas Hehr; Sonja Ploetz; Josep Gamez; Arndt Rolfs; Joachim Weis; Thomas M Ringer; Michael Bonin; Gerhard Schuierer; Jörg Marienhagen; Ulrich Bogdahn; Bernhard H F Weber; Haluk Topaloglu; Ludger Schols; Olaf Riess; Jürgen Winkler
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Annals of neurology 2007;62(6):656-65.
2007: Ute Hehr; Gökhan 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; Ludwig Aigner; Hanns Lochmüller; Jürgen Winkler
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Neurogenetics 2007;8(4):279-88.
2007: Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2007: Burcu Balci; Deborah J Morris-Rosendahl; Asli Celebi; Beril Talim; Haluk Topaloglu; Pervin Dinçer
Prenatal diagnosis of muscle-eye-brain disease.
Prenatal diagnosis 2007;27(1):51-4.
2006: Burcu Balci; Stefania Aurino; Göknur Haliloglu; Beril Talim; Sevim Erdem; Zuhal Akcören; Ersin Tan; Melda Caglar; Isabelle Richard; Vincenzo Nigro; Haluk Topaloglu; Pervin Dincer
Calpain-3 mutations in Turkey.
European journal of pediatrics 2006;165(5):293-8.
2006: Gökhan Uyanik; N Elcioglu; J Penzien; Claudia Gross; Y Yilmaz; Akgün Olmez; E Demir; D Wahl; K Scheglmann; Beate Winner; Ulrich Bogdahn; Haluk Topaloglu; Ute Hehr; Jürgen Winkler
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
Neurology 2006;66(7):1044-8.
2006: Akgün Olmez; Gökhan Uyanik; Riza Köksal Ozgül; Claudia Gross; S Cirak; Bulent Elibol; Banu Anlar; Beate Winner; Ute Hehr; Haluk Topaloglu; Jürgen Winkler
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
Neuropediatrics 2006;37(2):59-66.
2005: Jan Senderek; Michael Krieger; Claudia Stendel; Carsten Bergmann; Markus Moser; Nico Breitbach-Faller; Sabine Rudnik-Schöneborn; Astrid Blaschek; Nicole I Wolf; Inga Harting; Kathryn North; Janine Smith; Francesco Muntoni; Martin Brockington; Susana Quijano-Roy; Francis Renault; Ralf Herrmann; Linda M Hendershot; J Michael Schröder; Hanns Lochmüller; Haluk Topaloglu; Thomas Voit; Joachim Weis; Friedrich Ebinger; Klaus Zerres
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Mariz Vainzof; Pascale Richard; Ralf Herrmann; Cecilia Jimenez-Mallebrera; Beril Talim; Lydia U Yamamoto; Céline Ledeuil; Rachael Mein; Stephen Abbs; Martin Brockington; Norma B Romero; Mayana Zatz; Haluk Topaloglu; Thomas Voit; Caroline Sewry; Francesco Muntoni; Pascale Guicheney; Fernando M S Tomé
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: Giulio Piluso; Luisa Politano; Stefania Aurino; Marina Fanin; Enzo Ricci; V M Ventriglia; A Belsito; A Totaro; V Saccone; Haluk Topaloglu; Anna Chiara Nascimbeni; Luigi Fulizio; A Broccolini; Nina Canki-Klain; Lucia I Comi; Ge Nigro; Corrado Angelini; Vincenzo Nigro
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Journal of medical genetics 2005;42(9):686-93.
2005: Adele D'Amico; Göknur Haliloglu; Pascale Richard; Beril Talim; Svetlana Maugenre; Ana Ferreiro; Pascale Guicheney; Immacolata Menditto; Sara Benedetti; Enrico Bertini; Gisèle Bonne; Haluk Topaloglu
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscular disorders : NMD 2005;15(8):521-4.
2005: Ercan Demir; Pascale Bomont; S Erdem; L Cavalier; Mehmet Demirci; Gulsen Kose; S Muftuoglu; A N Cakar; E Tan; Sabiha Aysun; Meral Topcu; P Guicheney; Michel Koenig; Haluk Topaloglu
Giant axonal neuropathy: clinical and genetic study in six cases.
Journal of neurology, neurosurgery, and psychiatry 2005;76(6):825-32.
2004: Göknur Haliloglu; Claudia Gross; Nesrin Senbil; Beril Talim; Ute Hehr; Gökhan Uyanik; J Winkler; Haluk Topaloglu
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: E Demir; Ana Ferreiro; Patrizia Sabatelli; Valérie Allamand; Samira Makri; Bernard Echenne; M Maraldi; Luciano Merlini; Haluk Topaloglu; Pascale Guicheney
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.
2003: Pervin Dinçer; Burcu Balci; Yeliz Yuva; Beril Talim; Martin Brockington; Deniz Dinçel; Silvia Torelli; Sue Brown; Gülsev Kale; Göknur Haliloglu; Filiz Ozbas Gerçeker; Rengul Cetin-Atalay; Cengiz Yakicier; Cheryl Longman; Francesco Muntoni; Haluk Topaloglu
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: Francesco Muntoni; B Valero de Bernabe; R Bittner; D Blake; H van Bokhoven; Martin Brockington; S Brown; Kate Bushby; Kevin P Campbell; M Fiszman; S Gruenewald; Luciano Merlini; Susana Quijano-Roy; Norma B Romero; Patrizia Sabatelli; Caroline A Sewry; Volker Straub; Beril Talim; Haluk Topaloglu; Thomas Voit; Peter D Yurchenco; J Andoni Urtizberea; Ulla M Wewer; Pascale Guicheney
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: Haluk Topaloglu; Martin Brockington; Yeliz Yuva; Beril Talim; Göknur Haliloglu; D Blake; Silvia Torelli; Susan C Brown; Francesco Muntoni
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
2003: Naci Ceviz; Füsun Alehan; Dursun Alehan; Sencan Ozme; Zuhal Akçören; Gülsev Kale; Haluk Topaloglu
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: Ercan Demir; Joy Irobi; Sevim Erdem; Mehmet Demirci; Ersin Tan; Vincent Timmerman; Peter De Jonghe; Haluk Topaloglu
Andermann syndrome in a Turkish patient.
Journal of child neurology 2003;18(1):76-9.
2002: Guglielmina Pepe; Enrico Bertini; Paolo Bonaldo; Kate Bushby; Betti Giusti; Marianne De Visser; Pascale Guicheney; Giovanna Lattanzi; Luciano Merlini; Francesco Muntoni; Ichizo Nishino; Ikuya Nonaka; R Ben Yaou; Patrizia Sabatelli; Caroline Sewry; Haluk Topaloglu; Anneke J van der Kooi
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: Francesco Muntoni; Enrico Bertini; Carsten G Bönnemann; Martin Brockington; S Brown; Kate Bushby; M Fiszman; C Körner; Eugenio Mercuri; Luciano Merlini; J Hewitt; Susana Quijano-Roy; Norma B Romero; Stefano Squarzoni; Caroline A Sewry; Volker Straub; Haluk Topaloglu; Göknur Haliloglu; Thomas Voit; Ulla M Wewer; Pascale Guicheney
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: Ercan Demir; Patrizia Sabatelli; Valérie Allamand; Ana Ferreiro; Behzad Moghadaszadeh; Mohamed Makrelouf; Haluk Topaloglu; Bernard Echenne; Luciano Merlini; Pascale Guicheney
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
American journal of human genetics 2002;70(6):1446-58.
2002: Göknur Haliloglu; Banu Anlar; Sabiha Aysun; Meral Topcu; Haluk Topaloglu; Güzide Turanli; Dilek Yalnizoglu
Gender prevalence in childhood multiple sclerosis and myasthenia gravis.
Journal of child neurology 2002;17(5):390-2.
2001: Behzad Moghadaszadeh; Nathalie Petit; C Jaillard; Martin Brockington; S Quijano Roy; Luciano Merlini; Norma B Romero; Brigitte Estournet; Isabelle Desguerre; D Chaigne; Francesco Muntoni; Haluk Topaloglu; Pascale Guicheney
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: Bru Cormand; Helena Pihko; M Bayés; Leena Valanne; Pirkko Santavuori; Beril Talim; R Gershoni-Baruch; A Ahmad; H van Bokhoven; H G Brunner; T Voit; Haluk Topaloglu; W B Dobyns; Anna-Elina Lehesjoki
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Neurology 2001;56(8):1059-69.
2001: Cigdem F Dogulu; Tulay Kansu; Volkan Seyrantepe; Meral Ozguc; Haluk Topaloglu; D R Johns
Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population.
Eye (London, England) 2001;15(Pt 2):183-8.
2001: Hayat Erdem; Didem Dayangaç; S Pehlivan; Haluk Topaloglu
Prenatal diagnosis of spinal muscular atrophy in Turkish families.
Central European journal of public health 2001;9(1):35-7.
2000: Pascale Bomont; L Cavalier; Francois Blondeau; Christiane Ben Hamida; Samir Belal; Meriem Tazir; Ercan Demir; Haluk Topaloglu; R Korinthenberg; B Tüysüz; P Landrieu; Faycal Hentati; Michel Koenig
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: L Cavalier; C BenHamida; Rim Amouri; Samir Belal; Pascale Bomont; N Lagarde; L Gressin; D Callen; Ercan Demir; Haluk Topaloglu; P Landrieu; C Ioos; MB Hamida; Michel Koenig; Faycal Hentati
Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
European journal of human genetics : EJHG 2000;8(7):527-34.
2000: Volkan Seyrantepe; Haluk Topaloglu
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: Beril Talim; Gülsev Kale; Haluk Topaloglu; Zuhal Akçören; Melda Caglar; S Gögüş; M Elkay
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: Martin Brockington; Caroline A Sewry; R Herrmann; IS Naom; Andrew Dearlove; M Rhodes; Haluk Topaloglu; Victor Dubowitz; T Voit; Francesco Muntoni
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: Behzad Moghadaszadeh; Haluk Topaloglu; Luciano Merlini; Francesco Muntoni; Brigitte Estournet; Caroline Sewry; IS Naom; Annie Barois; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: Volkan Seyrantepe; Gülsev Kale; Haluk Topaloglu; Ayfer Alikasifoglu; M Ozgüc
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: Isabelle Richard; Carinne Roudaut; A Saenz; R Pogue; J E Grimbergen; Louise V B Anderson; C Beley; Anna Maria Cobo; C de Diego; Bruno Eymard; Pía Gallano; HB Ginjaar; Adriana Lasa; C Pollitt; Haluk Topaloglu; J Andoni Urtizberea; Marianne De Visser; Anneke J van der Kooi; Kate Bushby; Egbert Bakker; Adolfo Lopez de Munain; M Fardeau; Jacques Beckmann
Calpainopathy-a survey of mutations and polymorphisms.
American journal of human genetics 1999;64(6):1524-40.
1999: M Alikaşifoglu; Haluk Topaloglu; Ergül Tunçbilek; Naci Ceviz; B Anar; Ercan Demir; Sencan Ozme
Clinical and genetic correlate in childhood onset Friedreich ataxia.
Neuropediatrics 1999;30(2):72-6.
1999: Hayat Erdem; S Pehlivan; Haluk Topaloglu; Meral Ozgüç
Deletion analysis in Turkish patients with spinal muscular atrophy.
Brain & development 1999;21(2):86-9.
1999: Bru Cormand; Kristiina Avela; Helena Pihko; Pirkko Santavuori; Beril Talim; Haluk Topaloglu; Albert de La Chapelle; Anna-Elina Lehesjoki
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: Behzad Moghadaszadeh; Isabelle Desguerre; Haluk Topaloglu; Francesco Muntoni; S Pavek; Caroline Sewry; M Mayer; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
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: Pascale Guicheney; Nicolas Vignier; X Zhang; Y He; C Cruaud; V Frey; AH Helbling-Leclerc; Pascale Richard; Brigitte Estournet; Luciano Merlini; Haluk Topaloglu; Marina Mora; J P Harpey; Christine Haenggeli; Annie Barois; Bernard Hainque; Ketty Schwartz; Fernando M S Tomé; Michel Fardeau; K Tryggvason
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: Pervin Dinçer; France Leturcq; Isabelle Richard; Federica Piccolo; Dilek Yalnizoglu; C de Toma; Zuhal Akçören; O Broux; Nathalie Deburgrave; L Brenguier; Carinne Roudaut; J Andoni Urtizberea; D Jung; Ersin Tan; Marc Jeanpierre; Kevin P Campbell; Jean-Claude Kaplan; Jacques Beckmann; Haluk Topaloglu
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Annals of neurology 1997;42(2):222-9.
1997: Pascale Guicheney; Nicolas Vignier; AH Helbling-Leclerc; M Nissinen; X Zhang; C Cruaud; J C Lambert; C Richelme; Haluk Topaloglu; Luciano Merlini; Annie Barois; Ketty Schwartz; Fernando M S Tomé; K Tryggvason; Michel Fardeau
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: IS Naom; Caroline Sewry; M D'Alessandro; Haluk Topaloglu; Alessandra Ferlini; L Wilson; Victor Dubowitz; Francesco Muntoni
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 1997;7(3):176-9.
1997: Isabelle Richard; L Brenguier; Pervin Dinçer; Carinne Roudaut; B Bady; Jean-Marc Burgunder; Raymond Chemaly; C A Garcia; Georges Halaby; CE Jackson; D M Kurnit; Gérard Lefranc; C Legum; Jacques Loiselet; Luciano Merlini; A Nivelon-Chevallier; E Ollagnon-Roman; G Restagno; Haluk Topaloglu; Jacques Beckmann
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: IS Naom; M D'Alessandro; Caroline Sewry; Alessandra Ferlini; Haluk Topaloglu; AH Helbling-Leclerc; Pascale Guicheney; Ketty Schwartz; Zuhal Akcoren; Victor Dubowitz; Francesco Muntoni
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: E Tan; Haluk Topaloglu; Caroline Sewry; Y Zorlu; IS Naom; S Erdem; M D'Alessandro; Francesco Muntoni; Victor Dubowitz
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.
Neuromuscular disorders : NMD 1997;7(2):85-9.
1997: IS Naom; M D'Alessandro; Haluk Topaloglu; Caroline Sewry; Alessandra Ferlini; AH Helbling-Leclerc; Pascale Guicheney; J Weissenbach; Ketty Schwartz; Kate Bushby; J Philpot; Victor Dubowitz; Francesco Muntoni
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: Güler Kanra; Alev Ozon; J Vajsar; L Castagna; Gulten Secmeer; Haluk Topaloglu
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.
1997: Haluk Topaloglu; Francesco Muntoni; Victor Dubowitz; Caroline Sewry
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.
1996: Jacques Beckmann; Isabelle Richard; O Broux; Françoise Fougerousse; V Allamand; N Chiannilkulchai; LE Lim; F Duclos; Nathalie Bourg; L Brenguier; P Pasturaud; F Quétier; Carinne Roudaut; Y Sunada; J Meyer; Pervin Dinçer; Gérard Lefranc; Luciano Merlini; Haluk Topaloglu; Fernando M S Tomé; D Cohen; CE Jackson; Kevin P Campbell; M Fardeau
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Neuromuscular disorders : NMD 1996;6(6):455-62.
1996: B Fontaine; S Nicole; Haluk Topaloglu; Christiane Ben Hamida; P Beighton; F Spaans; J M Cantu; S Bakouri; N Romero; K Ricker; P Barros-Nunez; G Ponsot; M Ben Hamida; Jean Weissenbach; Faycal Hentati; F Lehmann-Horn
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: M Nissinen; AH Helbling-Leclerc; X Zhang; T Evangelista; Haluk Topaloglu; C Cruaud; Jean Weissenbach; M Fardeau; Fernando M S Tomé; Ketty Schwartz; Karl Tryggvason; Pascale Guicheney
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: Ayse Serdaroglu; Esin Kotiloglu; Melda Caglar; Haluk Topaloglu
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: Volkan Seyrantepe; Haluk Topaloglu; Enver Simsek; Meral Ozguc; Nursen Yordam
Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome.
Lancet 1996;347(9002):695-6.
1995: Haluk Topaloglu; E Tan; Pervin Dinçer; S Erdem; Zuhal Akçören
Good clinical observation is essential before molecular studies.
Lancet 1995;346(8988):1490.
1995: AH Helbling-Leclerc; Haluk Topaloglu; Fernando M S Tomé; C Sewry; G Gyapay; IS Naom; Francesco Muntoni; Victor Dubowitz; Annie Barois; Brigitte Estournet
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: AH Helbling-Leclerc; X Zhang; Haluk Topaloglu; C Cruaud; Frédérique Tesson; Jean Weissenbach; Fernando M S Tomé; Ketty Schwartz; M Fardeau; Karl Tryggvason
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
Nature genetics 1995;11(2):216-8.
1995: J Philpot; Haluk Topaloglu; JM Pennock; Victor Dubowitz
Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy.
Neuromuscular disorders : NMD 1995;5(3):227-31.
1994: D Hillaire; A Leclerc; S Fauré; Haluk Topaloglu; N Chiannilkulchaï; Pascale Guicheney; L Grinas; P Legos; J Philpot; T Evangelista
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.
Human molecular genetics 1994;3(9):1657-61.
1994: Haluk Topaloglu; Safiye Gögüs; Kalbiye Yalaz; T Kücükali; Ayse Serdaroglu
Two siblings with nemaline myopathy presenting with rigid spine syndrome.
Neuromuscular disorders : NMD 1994;4(3):263-7.
1994: E Erdem; Hayyam Kiratli; T Erbaş; Kubilay Varli; Bora Eldem; S Akalin; E Tan; Haluk Topaloglu; G Gedikoglu
Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association.
Clinical neurology and neurosurgery 1994;96(1):86-91.
1992: Kalbiye Yalaz; Haluk Topaloglu; M Aksu; K Gucuyener; Meral Topcu
A predominantly cervical form of spinal muscular atrophy.
Journal of neurology, neurosurgery, and psychiatry 1992;55(6):523.
1992: Meral Topcu; K Gucuyener; Haluk Topaloglu; Y Renda; C Akyuz; Gülsev Kale
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: Kivilcim Gücüyener; Sabiha Aysun; Haluk Topaloglu; L Inan; Kubilay Varli
Monomelic amyotrophy in siblings.
Pediatric neurology 1991;7(3):220-2.
1990: Haluk Topaloglu; Kalbiye Yalaz; Gülsev Kale; M Ergin
Congenital muscular dystrophy with cerebral involvement--report of a case of "occidental type cerebromuscular dystrophy"?
Neuropediatrics 1990;21(1):53-4.
1990: Haluk Topaloglu; Kivilcim Gücüyener; C Orkun; Y Renda
Tremor of tongue and dysarthria as the sole manifestation of Wilson's disease.
Clinical neurology and neurosurgery 1990;92(3):295-6.
1989: Haluk Topaloglu; Y Renda; Gülsev Kale; K Gucuyener
Muscular dystrophy or spinal muscular atrophy?
Lancet 1989;1(8644):960-1.