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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

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Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2

Clinical genetics, 2018-11, Vol.94 (5), p.467-472

2018

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In memory of Dieter Pongratz

Zeitschrift für Rheumatologie, 2017-04, Vol.76 (3), p.281

2017

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Consequences of mutations within the C terminus of the FHL1 gene

Neurology, 2009-08, Vol.73 (7), p.543

2009

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.275-281

2008

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Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

Neurology, 2003-06, Vol.60 (11), p.1805

2003

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Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study

Journal of cellular and molecular medicine, 2011-02, Vol.15 (2), p.445-456

2011

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Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

Journal of neurology, 2010, Vol.257 (1), p.91-97

2010

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Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline

European journal of paediatric neurology, 2020-03, Vol.25, p.5-16

2020

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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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Rare intronic mutation between Exon 62 and 63 (c.9225–285A>G) of the dystrophin gene associated with atypical BMD phenotype

Neuromuscular disorders : NMD, 2020-08, Vol.30 (8), p.680-684

2020

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FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

Journal of medical genetics, 2004-04, Vol.41 (4), p.e50-e50

2004

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Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Neuromuscular disorders : NMD, 2015-02, Vol.25 (2), p.120-126

2015

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Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

Neurology, 2006-10, Vol.67 (7), p.1159

2006

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Early white matter changes in childhood multiple sclerosis: a diffusion tensor imaging study

American journal of neuroradiology : AJNR, 2013-10, Vol.34 (10), p.2015-2020

2013

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Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes

Neurology, 2002-01, Vol.58 (2), p.231

2002

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Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy

Neuromuscular disorders : NMD, 2016-04, Vol.26 (4-5), p.322-325

2016

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Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.134-142

2014

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Qualitative and quantitative muscle ultrasound in patients with Duchenne muscular dystrophy: Where do sonographic changes begin?

European journal of paediatric neurology, 2020-09, Vol.28, p.142-150

2020

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P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.827-828

2013

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Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

Journal of neuromuscular diseases, 2017, Vol.4 (4), p.315-325

2017

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Diagnostics and therapy of myositis

Fortschritte der Neurologie, Psychiatrie, 2003-10, Vol.71 (10), p.549-562

Müller-Felber, W

2003

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G.O.19

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.920-921

2014

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Quality of life after brachial plexus lesions in adults

Handchirurgie, Mikrochirurgie, plastische Chirurgie, 2013-08, Vol.45 (4), p.229

2013

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Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

Neuropathology and applied neurobiology, 2007-10, Vol.33 (5), p.544-559

2007

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2

In memory of Dieter Pongratz

Consequences of mutations within the C terminus of the FHL1 gene

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial

Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline

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

Rare intronic mutation between Exon 62 and 63 (c.9225–285A>G) of the dystrophin gene associated with atypical BMD phenotype

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

Early white matter changes in childhood multiple sclerosis: a diffusion tensor imaging study

Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes

Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study

Qualitative and quantitative muscle ultrasound in patients with Duchenne muscular dystrophy: Where do sonographic changes begin?

P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry

Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

Diagnostics and therapy of myositis

G.O.19

Quality of life after brachial plexus lesions in adults

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

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