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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

Neurology, 2012-03, Vol.78 (12), p.897-903

2012

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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

European journal of neurology, 2018-05, Vol.25 (5), p.790-794

2018

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Hereditary myopathy with early respiratory failure: occurrence in various populations

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.345-353

2014

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Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S282-S283

2015

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G.P.20

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.800-800

2014

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G.P.17

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.799-799

2014

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Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S162-S162

2016

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The genetic panorama in titin gene by re-sequencing projects

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S113-S113

2016

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A novel mutation in DNAJB6 causes LGMD1D in two French families

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S236-S236

2015

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P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.820-821

2013

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G.P.283

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.902-902

2014

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A.P.4

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.831-832

2014

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GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology

Journal of neuromuscular diseases, 2016-05, Vol.3 (2), p.283-288

2016

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Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Annals of neurology, 2013-04, Vol.73 (4), p.500-509

2013

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P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.758-759

2013

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G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.873-873

2012

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G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.818-819

2012

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G.P.17: TTN a challenge for next generation sequencing

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.799-799

2014

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G.P.20: A targeted next-generation sequencing panel for diagnostic use in primary myopathies

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.800-800

2014

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G.P.323 - Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S282-S283

2015

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P.80 - The genetic panorama in titin gene by re-sequencing projects

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S113-S113

2016

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P.247 - Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S162-S162

2016

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G.P.173 - A novel mutation in DNAJB6 causes LGMD1D in two French families

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S236-S236

2015

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Novel mutations in DNAJB6 cause LGMD 1D and distal myopathy in French families

European journal of neurology, 2018-05, Vol.25 (5), p.790-794

2018

Volltextzugriff (PDF)

IL-2 effect on NK cell phentoype of PBPC from healthy donors and patients

European journal of cancer (1990), 2001-04, Vol.37, p.S100-S100

2001

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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

Hereditary myopathy with early respiratory failure: occurrence in various populations

Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

G.P.20

G.P.17

Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

The genetic panorama in titin gene by re-sequencing projects

A novel mutation in DNAJB6 causes LGMD1D in two French families

P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

G.P.283

A.P.4

GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity

G.O.1 Welander distal myopathy is caused by a mutated RNA binding protein

G.P.35 Identical TTN gene A-band mutation causing HMERF occurs in different European populations

G.P.17: TTN a challenge for next generation sequencing

G.P.20: A targeted next-generation sequencing panel for diagnostic use in primary myopathies

G.P.323 - Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

P.80 - The genetic panorama in titin gene by re-sequencing projects

P.247 - Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

G.P.173 - A novel mutation in DNAJB6 causes LGMD1D in two French families

Novel mutations in DNAJB6 cause LGMD 1D and distal myopathy in French families

IL-2 effect on NK cell phentoype of PBPC from healthy donors and patients

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