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Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome

Neurology, 2011-11, Vol.77 (18), p.1698

2011

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Pain management in rare diseases

Schmerz (Berlin, Germany), 2020-10, Vol.34 (5), p.447-459

2020

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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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An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

Neuropathology and applied neurobiology, 2020-06, Vol.46 (4), p.359-374

2020

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Diagnostic implications of three cases of skeletal muscle light-chain (AL) amyloidosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S208-S208

2016

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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

Neurology, 2010-05, Vol.74 (20), p.1619

2010

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A two part, multi-centre, multiple dose study of Erythrocyte Encapsulated Thymidine Phosphorylase (EETP) in patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S21-S22

2017

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Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study

Acta neurologica Scandinavica, 2009-08, Vol.120 (2), p.111-118

2009

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Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2 : A whole body highfield MRI study

Journal of neurology, 2006-06, Vol.253 (6), p.753-761

2006

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P.18.12 Histological and magnetic resonance imaging findings of Vastus Lateralis in Myotonic Dystrophies: Do they match up?

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.835-836

2013

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Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita

Neurology, 2009-11, Vol.73 (21), p.1806

2009

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Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene

Neurology, 2010-02, Vol.74 (6), p.507

2010

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Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study

European journal of neurology, 2010-06, Vol.17 (6), p.842-845

2010

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Myopathy and neuropathy with pipestem capillaries and vascular activated complement deposition

Neurology, 2011-07, Vol.77 (4), p.401

2011

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P340 The MikroIBioM study - Comparison of gut microbiome of sporadic Inclusion Body Myositis (sIBM) patients and unaffected spouses

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S100-S100

2023

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Phenotypic spectrum of patients with MERRF and mutations in the MTTK gene

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S206-S206

2015

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Therapie mitochondrialer Erkrankungen

Medizinische Genetik, 2012-09, Vol.102 (3), p.187-192

Kornblum, C.

2012

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Therapie mitochondrialer Erkrankungen

Medizinische Genetik, 2012-09, Vol.24 (3), p.187-192

Kornblum, C.

2012

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Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns–Sayre syndrome

Brain (London, England : 1878), 2003-05, Vol.126 (5), p.1231-1240

2003

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Response: skeletal muscle MRI in recessive myotonia congenita

Acta neurologica Scandinavica, 2011-08, Vol.124 (2), p.148-148

2011

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Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

Acta neurologica Scandinavica, 2010-02, Vol.121 (2), p.131-135

2010

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EP.03Mevalonate kinase deficiency - a mimic of mitochondrial myopathy in clinic and muscle biopsy

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S71-S71

2019

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G.P.130

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.839-840

2014

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G.P.60 On mitochondrial function and genome integrity in myofibrillar myopathies

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.822-822

2012

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Diagnosis and therapy of late onset Pompe disease

Nervenarzt, 2013-12, Vol.84 (12), p.1467

2013

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Antibodies to metabotropic glutamate receptor 5 in the Ophelia syndrome

Pain management in rare diseases

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

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

Diagnostic implications of three cases of skeletal muscle light-chain (AL) amyloidosis

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

A two part, multi-centre, multiple dose study of Erythrocyte Encapsulated Thymidine Phosphorylase (EETP) in patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study

Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2 : A whole body highfield MRI study

P.18.12 Histological and magnetic resonance imaging findings of Vastus Lateralis in Myotonic Dystrophies: Do they match up?

Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene

Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study

Myopathy and neuropathy with pipestem capillaries and vascular activated complement deposition

P340 The MikroIBioM study - Comparison of gut microbiome of sporadic Inclusion Body Myositis (sIBM) patients and unaffected spouses

Phenotypic spectrum of patients with MERRF and mutations in the MTTK gene

Therapie mitochondrialer Erkrankungen

Therapie mitochondrialer Erkrankungen

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns–Sayre syndrome

Response: skeletal muscle MRI in recessive myotonia congenita

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

EP.03Mevalonate kinase deficiency - a mimic of mitochondrial myopathy in clinic and muscle biopsy

G.P.130

G.P.60 On mitochondrial function and genome integrity in myofibrillar myopathies

Diagnosis and therapy of late onset Pompe disease

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