H. Topaloglu

G. Kanra, H. Topaloglu, J. Vajsar, 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

J. Weissenbach, C. Cruaud, K. Tryggvason, 1995, Nature Genetics.

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

Ayse Yuzbasioglu, H. Topaloglu, B. Talim, 2020, The American journal of pathology.

Clinical, electrophysiological and neuropsychological findings of twenty-two children with mesial temporal sclerosis.

I. Saatci, M. Topcu, S. Aysun, 2003, The Turkish journal of pediatrics.

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

B. Anlar, H. Topaloglu, H. Tan, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

MAN 1 B 1 Deficiency : An Unexpected CDG-II

G. Matthijs, P. Clayton, V. Racé, 2014 .

MAN1B1 Deficiency: An Unexpected CDG-II

G. Matthijs, P. Clayton, V. Racé, 2013, PLoS genetics.

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

H. Topaloglu, G. Kale, T. Willer, 2005, Neuromuscular Disorders.

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

C. Angelini, E. Ricci, G. Piluso, 2005, Journal of Medical Genetics.

The extensive scanning of the calpain-3 gene broadens the spectrum of LGMD 2 A phenotypes

Enzo, C. Angelini, G. Piluso, 2004 .

A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

Susan C. Brown, F. Muntoni, K. Campbell, 2009, Brain pathology.

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

U. Bogdahn, G. Schuierer, J. Winkler, 2007, Neurogenetics.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

Susan C. Brown, F. Muntoni, H. Topaloglu, 2003, Neurology.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

B. Echenne, H. Topaloglu, A. Ferreiro, 2002, American journal of human genetics.

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

C. Broeckhoven, V. Timmerman, E. Nelis, 2002, Neuromuscular Disorders.

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

B. Schlotter-Weigel, R. Horvath, J. Weis, 2018, Clinical genetics.

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

S. Karaaslan, H. Topaloglu, F. Şenocak, 1996, Acta paediatrica Japonica : Overseas edition.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

N. Drouot, S. Ferdinandusse, M. Koenig, 2015, European Journal of Human Genetics.

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

I. Nonaka, I. Nishino, H. Yoshikawa, 2002, Biochemical and biophysical research communications.

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

H. Topaloglu, K. Gücüyener, Y. Renda, 1990, Clinical Neurology and Neurosurgery.

Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome

H. Topaloglu, E. Şimşek, N. Yordam, 1996, The Lancet.

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

E. Bertini, B. Giusti, K. Bushby, 2002, Neuromuscular Disorders.

The genomic and clinical landscape of fetal akinesia

M. Cossée, R. Heller, A. Koy, 2019, Genetics in Medicine.

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

P. Korkusuz, H. Topaloglu, S. Çırak, 2010, American journal of human genetics.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

E. Mercuri, F. Muntoni, M. Rutherford, 2006, Archives of neurology.

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

F. Muntoni, V. Dubowitz, M. Rhodes, 2000, American journal of human genetics.

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

A. Oto, B. Cormand, H. Topaloglu, 2000, Neuromuscular Disorders.

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

A. Helbling-Leclerc, H. Topaloglu, G. Kale, 1998, Neuromuscular Disorders.

Arthrogryposis and fetal hypomobility syndrome.

H. Topaloglu, G. Haliloglu, 2013, Handbook of clinical neurology.

Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes

A. D’Amico, S. Benedetti, E. Bertini, 2005, Neuromuscular Disorders.

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

H. Topaloglu, Ş. Haspolat, O. Duman, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

R. Elashoff, R. Finkel, B. Byrne, 2017, Neurology.

Early-onset chronic axonal neuropathy, strokes, and hemolysis

I. Gut, J. Melki, J. Maluenda, 2015, Neurology.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

T. Meitinger, T. Strom, H. Prokisch, 2016, American journal of human genetics.

Neuromuscular disorders in Anatolia – A personal review

H. Topaloglu, H. Topaloğlu, 2019, Neuromuscular Disorders.

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency.

B. Cavdarli, H. Topaloglu, K. Oguz, 2018, Neurology. Clinical practice.

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

H. Topaloglu, K. Oguz, M. Alikaşifoğlu, 2017, Neuropediatrics.

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

J. Beckmann, H. Topaloglu, G. Kale, 2000, Journal of medical genetics.

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

F. Muntoni, I. Desguerre, H. Topaloglu, 1998, American journal of human genetics.

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

J. Weissenbach, K. Bushby, F. Muntoni, 1997, Journal of medical genetics.

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.

J. Weissenbach, C. Cruaud, M. Nissinen, 1996, American journal of human genetics.

Refinement of the laminin a2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

K. Bushby, F. Muntoni, M. D'alessandro, 2022 .

Myositis associated with growth hormone therapy.

H. Topaloglu, N. Kandemir,, T. Küçükali, 1994, The Journal of pediatrics.

Expression of HLA Class I Antigens in Skeletal Muscle Is a Diagnostic Marker in Juvenile Dermatomyositis

F. Muntoni, V. Dubowitz, H. Topaloglu, 1997, Journal of child neurology.

Lamotrigine for children with refractory epilepsy

M. Topcu, S. Aysun, G. Turanlı, 2008, The Turkish journal of pediatrics.

Andermann Syndrome in a Turkish Patient

V. Timmerman, H. Topaloglu, P. de Jonghe, 2003, Journal of child neurology.

Long‐term course and mutational spectrum of spatacsin‐linked spastic paraplegia

J. Winkler, U. Bogdahn, P. Bauer, 2007, Annals of neurology.

Challenges in pediatric chronic inflammatory demyelinating polyneuropathy

H. Topaloglu, Ç. Temucin, D. Yüksel, 2016, Neuromuscular Disorders.

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

H. Topaloglu, A. Gürgey, M. Firat, 1997, American journal of hematology.

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

M. Main, F. Muntoni, A. Beggs, 2020, Annals of clinical and translational neurology.

Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis.

S. Ozen, H. Topaloglu, B. Talim, 2020, Seminars in arthritis and rheumatism.

Mutations in GDAP1

C. van Broeckhoven, F. Palau, V. Timmerman, 2002, Neurology.

Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies

V. Timmerman, M. Villanova, E. Nelis, 2001 .

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

J. Stinson, J. Jaremko, A. Goris, 2017, Pediatric Rheumatology.

X-linked oligophrenic vermian dysgenesis

J. Higgins, H. Topaloglu, 2005, Neurology.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci

B. Echenne, H. Topaloglu, A. Ferreiro, 2004, Neuropediatrics.

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

T. Coşkun, H. Topaloglu, M. Kılıç, 2009, The Turkish journal of pediatrics.

Neurologic features as initial presentations of childhood malignancies.

M. Topcu, S. Aysun, H. Topaloglu, 1994, Pediatric neurology.

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

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Human Genetics.

Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

V. Dubowitz, J. Pennock, H. Topaloglu, 1995, Neuromuscular Disorders.

Occidental type cerebromuscular dystrophy: a report of eleven cases.

H. Topaloglu, G. Kale, M. Çağlar, 1991, Journal of neurology, neurosurgery, and psychiatry.

Congenital Muscular Dystrophy with Cerebral Involvement - Report of a Case of "Occidental Type Cerebromuscular Dystrophy"?

H. Topaloglu, G. Kale, M. Ergin, 1990, Neuropediatrics.

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

A. Garg, H. Topaloglu, T. Atik, 2016, European journal of medical genetics.

Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients

D. Yalnızoǧlu, H. Topaloglu, S. Pehlivan, 1996, Journal of Inherited Metabolic Disease.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

Beryl B. Cummings, D. MacArthur, M. Lek, 2016, American journal of human genetics.

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

G. Comi, C. Palermo, M. Pane, 2022, The Lancet Neurology.

Disseminated alveolar rhabdomyosarcoma in a child with spinal muscular atrophy.

H. Topaloglu, N. Yariş, T. Kutluk, 2002, Journal of pediatric hematology/oncology.

Position Statement:Emerging genetic therapies for rare disorders

A. Kirton, I. Tein, H. Topaloglu, 2019, Journal of the International Child Neurology Association.

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

B. Soyak, H. Topaloglu, A. Tanaçan, 2018 .

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

H. Topaloglu, B. Talim, B. Balci-Hayta, 2013, Neuromuscular Disorders.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

C. van Broeckhoven, F. Palau, V. Timmerman, 2002 .

Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy.

H. Topaloglu, E. Eren, H. Onay, 2020, The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology.

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

H. Topaloglu, S. Çırak, B. Talim, 2017, Neuromuscular Disorders.

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

P. Sharafi, P. Korkusuz, H. Topaloglu, 2014, Neuromuscular Disorders.

A hypotonic infant with tachycardia and fever of unknown origin.

H. Topaloglu, S. Yalçın, E. Tunçbilek, 2007, Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners.

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

G. Comi, S. Corti, E. Mazzone, 2022, The Lancet Neurology.

Alterations in insulin‐like growth factor system in spinal muscular atrophy

H. Topaloglu, A. Alikaşifoğlu, B. Talim, 2022, Muscle & nerve.

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

C. Richelme, M. Nissinen, A. Barois, 1997, Neuromuscular Disorders.

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

W. Chung, R. Finkel, E. Bertini, 2017, Neuromuscular Disorders.

Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings

H. Topaloglu, Sevim Erdem-Özdamar, D. Dayangaç-Erden, 2017, Pediatrics international : official journal of the Japan Pediatric Society.

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

J. Winkler, H. Topaloglu, B. Talim, 2004, Acta myologica.

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

N. Romero, F. Leturcq, B. Estournet, 2008, Neuromuscular Disorders.

The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene

P. White, B. Fontaine, H. Topaloglu, 1999, Human Genetics.

Deletion analysis in Turkish patients with spinal muscular atrophy

H. Topaloglu, S. Pehlivan, M. Özgüç, 1999, Brain and Development.

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

H. Topaloglu, G. Eser, H. Topaloğlu, 2022, Genes.

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

B. Soyak, H. Topaloglu, A. Tanaçan, 2018, Journal of pregnancy.

Childhood optic neuritis: the pediatric neurologist's perspective.

B. Anlar, H. Topaloglu, A. Serdaroğlu, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

R. J. Ramamurthi, S. Y. Kim, H. Y. Wang, 2017, The New England journal of medicine.

Expensive molecular therapies for rare genetic disorders: carrier detection or newborn screening should be the strategy. A personal opinion.

H. Topaloglu, 2021, Journal of the International Child Neurology Association.

Spinal muscular atrophy

H. Topaloglu, N. Kuntz, 2020, Neurology.

Mutations in COL 6 A 3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

B. Echenne, H. Topaloglu, A. Ferreiro, 2002 .

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

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

H. Topaloglu, G. Kale, M. Çağlar, 2000, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

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

O. Ceyhan-Birsoy, A. Beggs, H. Topaloglu, 2017, Journal of clinical neuromuscular disease.

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

H. Topaloglu, M. Alikaşifoğlu, G. Haliloglu, 2018, Neuropediatrics.

Duchenne muscular dystophy: A short review and treatment update

H. Topaloglu, H. Topaloğlu, 2021, Iranian journal of child neurology.

Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis

H. Topaloglu, A. Karaduman, A. Karaduman, 2004, European journal of neurology.

L-2-hydroxyglutaric aciduria: a report of 29 patients.

D. Yalnızoǧlu, C. Yalçınkaya, M. Topcu, 2005, The Turkish journal of pediatrics.

Glycosylation defects in muscular dystrophies

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2004, Current opinion in neurology.

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

F. Muntoni, M. D'alessandro, V. Dubowitz, 1997, Neuromuscular Disorders.

Neurologic Involvement in Primary Immunodeficiency Disorders

M. Topcu, I. Tezcan, B. Anlar, 2018, Journal of child neurology.

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

J. Winkler, B. Winner, B. Anlar, 2006, Neuropediatrics.

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

I. Saatci, D. Yalnızoǧlu, B. Anlar, 2004, The Turkish journal of pediatrics.

The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Domenica Taruscio, Emma Heslop, Jes Rahbek, 2013, Human mutation.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Beril Talim, Patrick F Chinnery, Robert W Taylor, 2014, JAMA.

Optic neuritis and myelitis after booster tetanus toxoid vaccination

H. Topaloglu, M. Berker, T. Kansu, 1992, The Lancet.

A Boy With Spastic Paraparesis and Dyspnea

T. Coşkun, H. Topaloglu, A. Dursun, 2004, Journal of child neurology.

Dermoid tumor with persistently low CSF glucose and unusual CT and MRI findings.

H. Topaloglu, V. Bertan, G. Erdem, 1994, Pediatric neurology.

Myasthenia gravis in childhood

B. Anlar, S. Aysun, H. Topaloglu, 1996, Acta paediatrica.

Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population

H. Topaloglu, T. Kansu, D. Johns, 2001, Eye.

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

E. Bertini, I. Gut, M. Bayés, 2012, American journal of human genetics.

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

W. Dobyns, H. Topaloglu, T. Toda, 2003, Clinical biochemistry.

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

B. Cormand, W. Dobyns, H. van Bokhoven, 2003, Journal of medical genetics.

A comparative histopathologic and immunohistopathologic evaluation of cremaster muscles from boys with various inguinoscrotal pathologies.

H. Topaloglu, N. Büyükpamukçu, Z. Akçören, 2001, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

S. Dimauro, H. Prokisch, K. Gempel, 2007, Brain : a journal of neurology.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

V. Frey, J. Harpey, C. Cruaud, 1998, Journal of medical genetics.

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

T. Coşkun, H. Topaloglu, B. Talim, 2019, Pediatric neurology.

High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy

B. Cavdarli, H. Topaloglu, A. Ceylan, 2022, Annals of human genetics.

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Haluk Topaloglu, H. Topaloglu, 2015, Neurology.

Calpain-3 deficiency causes a mild muscular dystrophy in childhood.

J. Beckmann, I. Richard, H. Topaloglu, 1997, Neuropediatrics.

Epidemiology of muscular dystrophies in the Mediterranean area

H. Topaloglu, H. Topaloğlu, 2013, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Calpain-3 mutations in Turkey

I. Richard, H. Topaloglu, E. Tan, 2006, European Journal of Pediatrics.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

S. Seneca, L. de Meirleir, T. Coşkun, 2011, The Turkish journal of pediatrics.

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

V. Ricotti, F. Muntoni, L. Servais, 2014, The Lancet Neurology.

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

G. Nürnberg, P. Nürnberg, V. Timmerman, 2009, Nature Genetics.

Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease

M. Bayés, H. Brunner, R. Gershoni-baruch, 2001, Neurology.

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

A. Chapelle, A. de la Chapelle, B. Cormand, 1999, American journal of human genetics.

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

H. Topaloglu, G. Kale, M. Çağlar, 1989, Brain and Development.

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Huseyin Boyaci, Katja Doerschner, Ergin Atalar, 2011, Genome research.

Giant axonal neuropathy: clinical and genetic study in six cases

M. Koenig, S. Aysun, H. Topaloglu, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

M. Koenig, B. Tüysüz, H. Topaloglu, 2000, Nature Genetics.

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Martin W. Breuss, J. Gleeson, H. Topaloglu, 2021, European Journal of Human Genetics.

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

T. Ozcelik, K. Bilguvar, M. Gunel, 2012, European Journal of Human Genetics.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Christophe Béroud, Hanns Lochmüller, Petr Brabec, 2015, Human mutation.

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

J. Weissenbach, P. Beighton, D. Samson, 2000, Nature Genetics.

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

B. Fontaine, H. Topaloglu, S. Nicole, 2003, Neuromuscular Disorders.

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

J. Weissenbach, P. Beighton, M. Hamida, 1996, Human Genetics.

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

M. Hamida, D. Callen, H. Topaloglu, 2000, European Journal of Human Genetics.

The Role of Genetics in Cardiomyopaties: A Review

H. Topaloglu, L. Vernengo, H. Topaloğlu, 2021 .

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan

F. Muntoni, H. Topaloglu, G. Kale, 2003, Neuromuscular Disorders.

Nesprinopathy: A multi-faceted genetic disorder.

H. Topaloglu, H. Bektaş, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision

R. Lewis, C. Sommer, B. Avau, 2021, Journal of the peripheral nervous system : JPNS.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of human genetics.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

S. Yılmaz, A. Engel, B. Anlar, 2017, Journal of child neurology.

The Rett syndrome in males

G. Turanlı, H. Topaloglu, M. Berker, 1991, Brain and Development.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

O. Ceyhan-Birsoy, L. Swanson, A. Beggs, 2015, Journal of Neuromuscular Diseases.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Susan C. Brown, E. Mercuri, K. Bushby, 2007, Brain : a journal of neurology.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

H. Kayserili, Y. Parman, H. Topaloglu, 2019, Neuromuscular Disorders.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

B. Ceulemans, Y. Parman, E. Battaloğlu, 2011, Brain : a journal of neurology.

R. Lewis, C. Sommer, B. Avau, 2021, European journal of neurology.

Two siblings with nemaline myopathy presenting with rigid spine syndrome

H. Topaloglu, A. Serdaroğlu, T. Küçükali, 1994, Neuromuscular Disorders.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

F. Muntoni, B. Estournet, A. Barois, 1999, Neuromuscular Disorders.

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

E. Mercuri, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Ullrich Congenital Muscular Dystrophy

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2020, Definitions.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

K. Bushby, K. Flanigan, C. Béroud, 2017, Journal of neuromuscular diseases.

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

T. Walsh, M. King, Ming K. Lee, 2014, Proceedings of the National Academy of Sciences of the United States of America.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

E. Mercuri, K. Bushby, F. Muntoni, 2008, Annals of neurology.

Merosin positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families

H. Topaloglu, M. Çağlar, B. Talim, 1997, Neuromuscular Disorders.

Clinical Variants of Ataxia-Telangiectasia

O. Sanal, I. Tezcan, F. Ersoy, 1993 .

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

H. Topaloglu, D. Dayangaç-Erden, H. Erdem-Yurter, 2008, Advances in therapy.

Are Lymphoblastoid Cell Lines Suitable to Study Increased SMN Gene Expression by Histone Deacetylase Inhibitors

H. Topaloglu, Hayat Erdem Yurter, D. Erden, 2008 .

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature

H. Topaloglu, H. Erdem, A. Ceylan, 2020, Acta Neurologica Belgica.

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

J. Carette, M. Raaben, S. Whelan, 2013, Science.

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study

H. Topaloglu, G. Yaylali, B. Talim, 2017, Neuromuscular Disorders.

Core myopathies – a short review

H. Topaloglu, H. Topaloğlu, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

K. Pelin, S. Rudnik-Schöneborn, V. Lehtokari, 2008, European Journal of Human Genetics.

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

H. Topaloglu, G. Kale, K. Gucuyener, 1992, The Journal of pediatrics.

Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy

H. Topaloglu, R. T. Moxley, S. Ashwal, 2016, Neurology.

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

B. Kirdar, H. Topaloglu, F. Kuseyri, 1993, Clinical genetics.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

H. Kayserili, A. Garg, B. Tuysuz, 2016, The Journal of clinical endocrinology and metabolism.

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Robert W. Taylor, J. Kemp, P. Chinnery, 2010, Brain : a journal of neurology.

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

H. Topaloglu, B. Talim, G. Haliloglu, 2015, Journal of Inherited Metabolic Disease.

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)

F. Muntoni, N. Romero, H. Bokhoven, 2003, Neuromuscular Disorders.

Selective involvement of the quadriceps muscle in congenital muscular dystrophies: An ultrasonographic study

B. Anlar, S. Aysun, H. Topaloglu, 1992, Brain and Development.

Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medici

H. Topaloglu, G. Haliloglu, H. Topaloğlu, 2015, Neurology.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

I. Nonaka, Y. Hayashi, I. Nishino, 2011, American journal of human genetics.

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

F. Muntoni, K. Campbell, Y. Hara, 2011, The New England journal of medicine.

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

M. Mizuno, M. Takeuchi, H. Topaloglu, 2001, Developmental cell.

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

R. Finkel, A. Pestronk, E. Mazzone, 2019, Journal of Pharmacokinetics and Pharmacodynamics.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

J. Beckmann, J. Burgunder, J. Loiselet, 1997, American journal of human genetics.

Acute Disseminated Encephalomyelitis in Childhood: Report of 10 Cases

B. Anlar, H. Topaloglu, G. Kose, 1999, Journal of child neurology.

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

Y. Nevo, H. Topaloglu, H. Topaloğlu, 2002, Neuromuscular Disorders.

Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association

T. Erbas, H. Topaloglu, G. Gedıkoğlu, 1994, Clinical Neurology and Neurosurgery.

Wall eyed bilateral internuclear ophthalmoplegia in chronic inflammatory demyelinating polyneuropathy

H. Topaloglu, T. Kansu, A. Korkmaz, 2002, European journal of neurology.

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

E. Bertini, K. Bushby, F. Muntoni, 2003, Annals of neurology.

The association between trunk control and upper limb functions of children with Duchenne muscular dystrophy

H. Topaloglu, A. Karaduman, İ. Alemdaroğlu-Gürbüz, 2020, Physiotherapy theory and practice.

A predominantly cervical form of spinal muscular atrophy.

H. Topaloglu, K. Gucuyener, M. Aksu, 1992, Journal of neurology, neurosurgery, and psychiatry.

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

R. Finkel, T. Crawford, W. Hwu, 2019, Neuromuscular Disorders.

Facioscapulohumeral syndrome with cardiomyopathy.

H. Topaloglu, O. Erdinç, K. Gücüyener, 1990, Postgraduate medical journal.

Vigabatrin in pediatric patients with refractory epilepsy.

D. Yalnızoǧlu, S. Aysun, G. Turanlı, 2006, The Turkish journal of pediatrics.

Carbamazepine induced systemic lupus erythematosus Another warning

H. Topaloglu, N. Beşbaş, A. Öner, 1990, Clinical Neurology and Neurosurgery.

Prenatal diagnosis of muscle‐eye‐brain disease

H. Topaloglu, B. Talim, D. Morris-Rosendahl, 2007, Prenatal diagnosis.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Munhyang Lee, Y. Hayashi, I. Nishino, 2003, Human molecular genetics.

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

N. Ceviz, H. Topaloglu, G. Kale, 2003, International journal of cardiology.

P.8.2 Reduction of LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

H. Topaloglu, G. Kale, B. Talim, 2013, Neuromuscular Disorders.

Deficiency of α-Dystroglycan in Muscle–Eye–Brain Disease

I. Nonaka, I. Nishino, H. Yoshikawa, 2002 .

Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy

H. Topaloglu, A. Karaduman, L. Özçakar, 2021, Arquivos de Neuro-Psiquiatria.

Effect of muscle weakness distribution on balance in neuromuscular disease

H. Topaloglu, A. Karaduman, Ö. Yılmaz, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Good clinical observation is essential before molecular studies

H. Topaloglu, E. Tan, Z. Akçören, 1995, The Lancet.

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

V. Dubowitz, B. Estournet, D. Hillaire, 1994, Human molecular genetics.

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.

G. Gyapay, F. Muntoni, V. Dubowitz, 1995, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

MYOSITIS ASSOCIATED WITH GROWTH HORMONE THERAPY. AUTHOR'S REPLY

H. Topaloglu, L. Charnas, T. Küçükali, 1994 .

Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview.

H. Topaloglu, Dilşad Foto-Özdemir, S. Ozusta, 2012, The Turkish journal of pediatrics.

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

H. Topaloglu, A. Karaduman, N. Bulut, 2018, Journal of child neurology.

Is oxidative damage in operation in patients with hereditary spastic paraparesis?

H. Topaloglu, A. Serdaroğlu, D. Erbaş, 2010, Brain and Development.

90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands

F. Muntoni, J. Melki, S. Rudnik-Schöneborn, 2002, Neuromuscular Disorders.

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Thomas Sejersen, Rachel Thompson, Clemens Bloetzer, 2013, Journal of Neurology.

Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

F. Muntoni, P. Nürnberg, H. Topaloglu, 2020, American journal of medical genetics. Part A.

Turkish version of the Egen Klassifikation scale version 2: validity and reliability in the Turkish population.

H. Topaloglu, A. Karaduman, I. Alemdaroğlu, 2014, The Turkish journal of pediatrics.

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

J. Winkler, U. Bogdahn, B. Winner, 2006, Neurology.

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

E. Fadıloglu, Canan Unal, H. Topaloglu, 2018, Fetal and pediatric pathology.

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

P. Nürnberg, H. Topaloglu, S. Çırak, 2016, Journal of Human Genetics.

Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report.

H. Topaloglu, A. Karaduman, I. Alemdaroğlu, 2011, The Turkish journal of pediatrics.

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

P. Korkusuz, C. C. Eylem, E. Nemutlu, 2021, Scientific Reports.

Acridine orange‐RNA fluorescence of maturing neurons in the perinatal rat brain

H. Topaloglu, H. Sarnat, H. Topaloğlu, 1989, The Anatomical record.

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands

R. Finkel, B. Wirth, E. Mercuri, 2005, Neuromuscular Disorders.

Clinical and genetic correlate in childhood onset Friedreich ataxia.

N. Ceviz, H. Topaloglu, B. Anar, 1999, Neuropediatrics.

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

M. Keogh, M. Santibanez-Koref, P. Chinnery, 2013, Brain : a journal of neurology.

C.P.2.12 Congenital muscular dystrophy with mental retardation, dilated cardiomyopathy and abnormally located mitochondria

H. Topaloglu, B. Talim, D. Alehan, 2007, Neuromuscular Disorders.

R. Tenconi, M. Koenig, P. Calvas, 2019, Journal of Neurology.

N-Acetylaspartic Aciduria in Canavan Disease: Another Proof in Two Infants

H. Topaloglu, O. E. Ozcan, Y. Renda, 1990, Neuropediatrics.

G.P.34 The expanding spectrum of congenital titinopathies

C. Bönnemann, M. Gautel, E. Uro-Coste, 2014, Neuromuscular Disorders.

Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.

E. Mercuri, F. Muntoni, A. Manzur, 2003, Neuropediatrics.

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

E. Bertini, B. Giusti, S. Petrini, 2005, Annals of neurology.

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

H. Christen, Hanns Lochmüller, H. Topaloglu, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Gender Prevalence in Childhood Multiple Sclerosis and Myasthenia Gravis

D. Yalnızoǧlu, B. Anlar, S. Aysun, 2002, Journal of child neurology.

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

R. Houlston, F. Muntoni, L. Sagi, 2005, Human Genetics.

Mystery Case: Pontine tegmental cap dysplasia in a neonate

H. Topaloglu, P. Simsek-Kiper, Şafak Parlak, 2018, Neurology.

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

H. Topaloglu, M. Çalış, Arda Kucukguven, 2018, The Journal of craniofacial surgery (Print).

Improvement of Myotonia with Carbamazepine in Three Cases with the Schwartz-Jampel Syndrome

H. Topaloglu, A. Serdaroğlu, K. Gücüyener, 1993, Neuropediatrics.

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

H. Topaloglu, A. Richter, R. Ozgul, 2004, Neurogenetics.