List of works - Haluk Topaloğlu

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers

scientific article published in October 2005

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

scientific article published on January 1, 2015

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

scientific article published on 16 December 2015

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

scientific article

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

scientific article published on June 12, 2015

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

scientific article published on 9 June 2016

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

scientific article published in May 2003

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

scientific article published on 23 December 2016

Spinal muscular atrophy associated with progressive myoclonus epilepsy

scientific article published on 19 September 2016

Prenatal diagnosis of muscle-eye-brain disease

scientific article published in January 2007

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

scientific article published in February 2003

Epidemiology of muscular dystrophies in the Mediterranean area

scientific article published on December 1, 2013

X-linked oligophrenic vermian dysgenesis: syndromic vs non-syndromic X-linked mental retardation?

scientific article published in November 2005

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

scientific article published on March 12, 2014

Electroencephalographic findings in anti-N-methyl-d-aspartate receptor encephalitis in children: A series of 12 patients

scientific article published on 24 November 2017

Abnormal glycosylation of the alpha-dystroglycan: deficient sugars are no good

scientific article published on 25 March 2009

Andermann syndrome in a Turkish patient

scientific article published in January 2003

Neurologic Involvement in Primary Immunodeficiency Disorders

scientific article published in January 2018

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

scientific article published on 7 November 2017

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

scientific article published on 01 November 2018

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

scientific article published on 30 March 2015

List of works by Haluk Topaloğlu