UB Paderborn / Katalog / Suche / in CDI

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients

Neurology, 2011-01, Vol.76 (3), p.227

2011

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1497-1506

2007

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P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S14-S14

2014

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Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

Neurology, 2001-10, Vol.57 (8), p.1440

2001

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G.P.4.08 Determination of the SMN1 and SMN2 copy number based on real-time PCR in Hungarian families

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.762-762

2008

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Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes

Molecular and Cellular Biology, 1991-08, Vol.11 (8), p.4128-4134

1991

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A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

Neurology, 1999-10, Vol.53 (7), p.1564

1999

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DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.880-880

2012

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S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.886-887

2012

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S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.897-897

2012

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D.P.2.01 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patients

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.743-743

2008

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Individual patient (n=1) "trials" in Duchenne dystrophy Response

Neuromuscular disorders : NMD, 2011-07, Vol.21 (7), p.527

2011

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G.P.7.06 Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families-detection of carrier status in symptomatic and asymptomatic female relatives

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.778-778

2008

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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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G.P.14.08 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patients

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.856-856

2007

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NMP020 Genetic data on muscular dystrophies in Hungarian patients

European journal of paediatric neurology, 2007, Vol.11, p.76-76

2007

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Mutation History of the Roma/Gypsies

American journal of human genetics, 2004-10, Vol.75 (4), p.596-609

2004

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G.P.19.12 Specific neuromuscular diseases in the Roma population living in Hungary

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.897-897

2007

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NMP028 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patient

European journal of paediatric neurology, 2007, Vol.11, p.113-113

2007

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Sequence analysis of Hungarian LHON patients not carrying the common primary mutations

Journal of inherited metabolic disease, 2002-06, Vol.25 (4), p.323-324

2002

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Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS

Journal of neurology, 2000-01, Vol.247 (1), p.65-67

2000

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Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene

Neuropediatrics, 2002-10, Vol.33 (5), p.249

2002

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P03.11 High-throughput diagnosis of neuromuscular diseases – Hungarian experience using the comparative genomic hybridisation (CGH) array

European journal of paediatric neurology, 2011-05, Vol.15, p.S45-S45

2011

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Examination of verocytotoxin producing capacity and determination of the presence of Shiga-like toxin genes in human Escherichia coli isolates

Acta microbiologica et immunologica Hungarica, 1994, Vol.41 (3), p.259

1994

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Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

G.P.4.08 Determination of the SMN1 and SMN2 copy number based on real-time PCR in Hungarian families

Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

D.P.2.01 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patients

Individual patient (n=1) "trials" in Duchenne dystrophy Response

G.P.7.06 Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families-detection of carrier status in symptomatic and asymptomatic female relatives

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

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

G.P.14.08 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patients

NMP020 Genetic data on muscular dystrophies in Hungarian patients

Mutation History of the Roma/Gypsies

G.P.19.12 Specific neuromuscular diseases in the Roma population living in Hungary

NMP028 Genotype and phenotype studies of myotonic dystrophy 1 (DM1) in Hungarian patient

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations

Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene

P03.11 High-throughput diagnosis of neuromuscular diseases – Hungarian experience using the comparative genomic hybridisation (CGH) array

Examination of verocytotoxin producing capacity and determination of the presence of Shiga-like toxin genes in human Escherichia coli isolates

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