H. Topaloğlu

G. Kale, E. Kotilŏglu, Y. Renda, 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.

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.

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

K. Pelin, K. Bushby, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

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.

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

T. Walsh, M. King, Ming K. Lee, 2015, Proceedings of the National Academy of Sciences.

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

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

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.

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.

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

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

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

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

Calpainopathy-a survey of mutations and polymorphisms.

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

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.

Core myopathies – a short review

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

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.

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

N. Hübner, L. Medne, M. Gautel, 2014, Human molecular 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.

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

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

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.

Calpain-3 mutations in Turkey

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

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

J. Beckmann, H. Topaloglu, G. Kale, 2000, 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 .

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis

S. Ozen, H. Topaloglu, G. Kale, 2020, Rheumatology International.

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.

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.

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.

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.

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.

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

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

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.

A Boy With Spastic Paraparesis and Dyspnea

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

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.

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.

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.

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.

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.

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.

Disseminated alveolar rhabdomyosarcoma in a child with spinal muscular atrophy.

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

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.

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.

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.

Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis

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

Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome

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

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

M. Topcu, H. Topaloglu, K. Oguz, 2017, Acta Neurologica Belgica.

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 .

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.

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

E. Atalar, H. Boyaci, K. Doerschner, 2011 .

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.

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

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

The genomic and clinical landscape of fetal akinesia

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

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

Challenges in pediatric chronic inflammatory demyelinating polyneuropathy

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

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

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

Deletion analysis in Turkish patients with spinal muscular atrophy

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

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

H. Kayserili, B. Fontaine, C. Davoine, 2006, Human mutation.

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.

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

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

Neuromuscular disorders in Anatolia – A personal review

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

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.

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy

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

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.

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

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

Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

D. Yalnızoǧlu, G. Kale, A. Tasdemir, 1994, Neuropediatrics.

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy

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

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.

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

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

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.

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.

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.

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

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

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

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

Occidental type cerebromuscular dystrophy: a report of eleven cases.

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families

J. Prud'homme, C. Paternotte, H. Topaloglu, 2001, Neuropediatrics.

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

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

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

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

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

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

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.

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

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

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.

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.

The Rett syndrome in males

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

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

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

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.

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

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

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

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

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

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

Neurologic features as initial presentations of childhood malignancies.

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

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.

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

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

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

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

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

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

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

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

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.

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

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

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.

Neurologic Involvement in Primary Immunodeficiency Disorders

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

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.

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.

Mutations in GDAP1

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

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

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

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

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

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.

MAN1B1 Deficiency: An Unexpected CDG-II

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

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

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

Prenatal diagnosis of muscle‐eye‐brain disease

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

Glycosylation defects in muscular dystrophies

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

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

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

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

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

MR imaging of pelvic and thigh muscles in congenital muscular dystrophy.

A. Oto, B. Talim, U. Aydıngöz, 2001, The Turkish journal of pediatrics.

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

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

Giant axonal neuropathy: clinical and genetic study in six cases

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

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

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

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.

Zhang, W. et al. Enzymatic diagnostic test for muscle-eye-brain type congenital muscular dystrophy using commercially available reagents. Clin. Biochem. 36, 339-344

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

Ullrich Congenital Muscular Dystrophy

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

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

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

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.

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

J. Beckmann, N. Chiannilkulchai, F. Duclos, 1996, Neuromuscular Disorders.

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.

mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.

V. Seyrantepe, Z. Akçören, M. Ozgüç, 1998, Pediatric neurology.

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.

Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

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

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

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

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.

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.

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 .

Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

R. Finkel, T. Crawford, W. Hwu, 2023, Muscle & nerve.

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

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

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

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

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.

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.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies

B. Wirth, R. Boostani, R. Heller, 2018, Human mutation.

Neuromuscular disease genetics in under-represented populations: increasing data diversity

K. Thangaraj, P. Chinnery, S. Efthymiou, 2023, Brain : a journal of neurology.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

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

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

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

Two siblings with nemaline myopathy presenting with rigid spine syndrome

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

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

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

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

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

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.

Early-onset chronic axonal neuropathy, strokes, and hemolysis

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

This Work Is Licensed under a Creative Commons Attribution 4.0 International License the Treat-nmd Dmd Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

K. Bushby, K. Flanigan, C. Béroud, 2022 .

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

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

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

K. Oguz, E. Arslan, Gökçen Düzgün Konuşkan, 2017, Acta Neurologica Belgica.

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.

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.

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.

Carbamazepine induced systemic lupus erythematosus Another warning

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

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.

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

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories.

H. Kilic, C. Bekircan-Kurt, G. Haliloglu, 2020, Genetic testing and molecular biomarkers.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

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

Diagnosis of quantitative mitochondrial DNA defects by rapidly prepared whole mitochondrial DNA probe.

V. Seyrantepe, H. Topaloğlu, 2000, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Gender Prevalence in Childhood Multiple Sclerosis and Myasthenia Gravis

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

Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome.

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

Optic neuritis and myelitis after booster tetanus toxoid vaccination

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

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.

Results of Botilinum Toxin: An Application to Blepharospasmin Schwartz-Jampel Syndrome

H. Canter, I. Vargel, H. Topaloglu, 2006, The Journal of craniofacial surgery.

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

A. Karaduman, Ö. Yılmaz, I. Alemdaroğlu, 2015, Muscle & nerve.

MAN 1 B 1 Deficiency : An Unexpected CDG-II

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

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

A. Oto, B. Cormand, A. Ferreiro, 2000, Neuromuscular Disorders.

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.

Facioscapulohumeral syndrome with cardiomyopathy.

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