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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta neuropathologica, 2020-03, Vol.139 (3), p.565-582

2020

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Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S98-S98

2016

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Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies

Balkan journal of medical genetics, 2013-06, Vol.16 (1), p.21-29

2013

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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology, 2011-12, Vol.77 (24), p.2105

2011

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Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S108

2016

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G.P.237

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.888-888

2014

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RWD12 Medication Adherence and Quality of Life of Patients With Multiple Sclerosis in Bulgaria - A Pilot Study

Value in health, 2022-12, Vol.25 (12), p.S450-S450

2022

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HSD113 Access to Medicines, Care, and Services for Multiple Sclerosis Patients in Central and Eastern European Countries: A Comparative Analysis

Value in health, 2023-12, Vol.26 (12), p.S315

2023

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G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.874-875

2012

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, [alpha]-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta neuropathologica, 2020-03, Vol.139 (3), p.565

2020

Volltextzugriff (PDF)

P.26 - Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S98-S98

2016

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Real-world effectiveness of fingolimod in patients with multiple sclerosis in Bulgaria

Revista de neurologiá, 2023-11, Vol.77 (s04), p.S1-S7

2023

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P.94Peripheral myelin protein 2 - a novel mutation causing Charcot-Marie-Tooth neuropathy in a Bulgarian family

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S68-S68

2019

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LGMD AUTOSOMAL RESSESSIVE AND DOMINANT: P.99Limb-girdle muscular dystrophy 2Z in a Bulgarian family

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S59-S59

2018

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LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S59

2018

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

Journal of neurology, 2014, Vol.261 (1), p.152-163

2014

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Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience

Journal of the neurological sciences, 2019-10, Vol.405, p.353-353

2019

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488

2020

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Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian muslims homozygous for the c.75G>A, p.Trp25 TCAP mutation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S142

2017

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P.151 - Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian muslims homozygous for the c.75G>A, p.Trp25 TCAP mutation

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S142-S142

2017

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Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene

Journal of the neurological sciences, 2017-10, Vol.381, p.379-380

2017

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P.61 - Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S107-S108

2016

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A recessive ataxia diagnosis algorithm for the next generation sequencing era

Annals of neurology, 2017-12, Vol.82 (6), p.892-899

2017

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.3-3, Article 3

2020

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Stiff-limb syndrome – представяне на клиничен случай, диагностичен алгоритъм и лечение

Bŭlgarska nevrologii︠a︡ : izdanie na Bŭlgarskoto druzhestvo po nevrologii︠a︡ = Bulgarian neurology : official journal of the Bulgarian Society of Neurology, 2022-12, Vol.23 (2)

2022

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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy

Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

G.P.237

RWD12 Medication Adherence and Quality of Life of Patients With Multiple Sclerosis in Bulgaria - A Pilot Study

HSD113 Access to Medicines, Care, and Services for Multiple Sclerosis Patients in Central and Eastern European Countries: A Comparative Analysis

G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, [alpha]-dystroglycan hypoglycosylation and a distinctive radiological pattern

P.26 - Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy

Real-world effectiveness of fingolimod in patients with multiple sclerosis in Bulgaria

P.94Peripheral myelin protein 2 - a novel mutation causing Charcot-Marie-Tooth neuropathy in a Bulgarian family

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT: P.99Limb-girdle muscular dystrophy 2Z in a Bulgarian family

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

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

Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian muslims homozygous for the c.75G>A, p.Trp25 TCAP mutation

P.151 - Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian muslims homozygous for the c.75G>A, p.Trp25 TCAP mutation

Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene

P.61 - Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Stiff-limb syndrome – представяне на клиничен случай, диагностичен алгоритъм и лечение

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