Lista de obras - Haluk Topaloglu - Dominio Público Uruguay

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

artículo científico publicado en 2003

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

artículo científico publicado en 2002

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

artículo científico publicado en 2017

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Andermann syndrome in a Turkish patient

artículo científico publicado en 2003

Arthrogryposis and fetal hypomobility syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2003

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

artículo científico publicado en 2017

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

artículo científico publicado en 2002

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

artículo científico publicado en 2008

Calpain-3 mutations in Turkey

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

artículo científico publicado en 2013

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

artículo científico publicado en 2002

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

artículo científico publicado en 2005

Early onset collagen VI myopathies: Genetic and clinical correlations

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

Epidemiology of muscular dystrophies in the Mediterranean area

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado el 11 de agosto de 2011

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

MAN1B1 deficiency: an unexpected CDG-II

artículo científico publicado en 2013

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

artículo científico publicado en 2012

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy ⬇️

artículo científico publicado el 25 de noviembre de 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

Neurologic Involvement in Primary Immunodeficiency Disorders

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Prenatal diagnosis of muscle-eye-brain disease

artículo científico publicado en 2007

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

scientific article published on 08 October 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

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

artículo científico publicado en 2012

Spinal muscular atrophy associated with progressive myoclonus epilepsy

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

Lista de obras de Haluk Topaloglu

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

90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands

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

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

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

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

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

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

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

Andermann syndrome in a Turkish patient

Arthrogryposis and fetal hypomobility syndrome

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

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

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Calpain-3 mutations in Turkey

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

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

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

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

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

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

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

Early onset collagen VI myopathies: Genetic and clinical correlations

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

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

Epidemiology of muscular dystrophies in the Mediterranean area

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

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

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

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

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

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

MAN1B1 deficiency: an unexpected CDG-II

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

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

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

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy ⬇️

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

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

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

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

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

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

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

Neurologic Involvement in Primary Immunodeficiency Disorders

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

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

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

Prenatal diagnosis of muscle-eye-brain disease

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

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

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

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

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

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

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

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

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

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

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

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

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

Spinal muscular atrophy associated with progressive myoclonus epilepsy

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

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

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

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

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