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Statins, diabetes mellitus and prognosis of amyotrophic lateral sclerosis: data from 501 patients of a population‐based registry in southwest Germany

European journal of neurology, 2020-08, Vol.27 (8), p.1405-1414

2020

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Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

Neurology, 2010-04, Vol.74 (14), p.1108-1117

2010

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Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

European journal of neurology, 2013-03, Vol.20 (3), p.540-546

2013

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Employee Representation in Multinational Companies: The Articulation of Interests in Multilevel Action Fields

1, 2018

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Cardiac involvement of sporadic inclusion body myositis detected by cardiac magnetic resonance imaging

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S237-S237

2015

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Amyotrophic lateral sclerosis. Multisystem degeneration

Nervenarzt, 2016-02, Vol.87 (2), p.179-188

2016

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V42. De novo mutations in the FUS gene are a frequent cause of sporadic ALS in very young patients

Clinical neurophysiology, 2015-08, Vol.126 (8), p.e87-e87

2015

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Comparative phenotypical differences of Amyotrophic Lateral Sclerosis (ALS) in Germany and China

Journal of the neurological sciences, 2015-10, Vol.357, p.e229-e229

2015

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647P Tongue volume evaluation in spinal and bulbar muscular atrophy (SBMA) by AI-assisted automatic MRI-analysis

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.173

2024

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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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MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S139

2020

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MUSCLE IMAGING – MRI: P.158 The impact of muscle MRI in diagnostics of myopathies

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S92-S93

2020

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MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.317 A novel m.9143T>C variant – intercurrent severe lactate acidosis and immunodeficiency as an extension of the phenotypic spectrum in MT-ATP6 mutations

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S139-S139

2020

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MUSCLE IMAGING – MRI

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S92-S93

2020

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675P Understanding skeletal muscle pathology and function in late-onset Pompe disease: insights from proteomic and transcriptomic analyses

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.733

2024

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FV 9 Diffusion tensor imaging in pure lower motor neuron disease

Clinical neurophysiology, 2017-10, Vol.128 (10), p.e310-e310

2017

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P 5 Volumetric analysis of the hypothalamus in a large cohort of patient with amyotrophic lateral sclerosis

Clinical neurophysiology, 2017-10, Vol.128 (10), p.e328-e328

2017

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AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.11 Pain characteristics and involvement of small epidermal nerve fibers in patients with late onset Pompe disease (LOPD)

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S51-S51

2020

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AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S51

2020

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Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD

Annals of neurology, 2005-11, Vol.58 (5), p.777-780

2005

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Mechanism of voltage-dependent gating in skeletal muscle chloride channels

Biophysical journal, 1996-08, Vol.71 (2), p.695-706

1996

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Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions

European journal of medical research, 2006-12, Vol.11 (12), p.545

2006

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G.P.175 - Cardiac involvement of sporadic inclusion body myositis detected by cardiac magnetic resonance imaging

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S237-S237

2015

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Truncating mutations in FUS / TLS give rise to a more aggressive ALS ‐phenotype than missense mutations: a clinico‐genetic study in G ermany

European journal of neurology, 2013-03, Vol.20 (3), p.540-546

2013

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Statins, diabetes mellitus and prognosis of amyotrophic lateral sclerosis: data from 501 patients of a population‐based registry in southwest Germany

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

Employee Representation in Multinational Companies: The Articulation of Interests in Multilevel Action Fields

Cardiac involvement of sporadic inclusion body myositis detected by cardiac magnetic resonance imaging

Amyotrophic lateral sclerosis. Multisystem degeneration

V42. De novo mutations in the FUS gene are a frequent cause of sporadic ALS in very young patients

Comparative phenotypical differences of Amyotrophic Lateral Sclerosis (ALS) in Germany and China

647P Tongue volume evaluation in spinal and bulbar muscular atrophy (SBMA) by AI-assisted automatic MRI-analysis

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial

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

MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

MUSCLE IMAGING – MRI: P.158 The impact of muscle MRI in diagnostics of myopathies

MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.317 A novel m.9143T>C variant – intercurrent severe lactate acidosis and immunodeficiency as an extension of the phenotypic spectrum in MT-ATP6 mutations

MUSCLE IMAGING – MRI

675P Understanding skeletal muscle pathology and function in late-onset Pompe disease: insights from proteomic and transcriptomic analyses

FV 9 Diffusion tensor imaging in pure lower motor neuron disease

P 5 Volumetric analysis of the hypothalamus in a large cohort of patient with amyotrophic lateral sclerosis

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.11 Pain characteristics and involvement of small epidermal nerve fibers in patients with late onset Pompe disease (LOPD)

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD

Mechanism of voltage-dependent gating in skeletal muscle chloride channels

Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions

G.P.175 - Cardiac involvement of sporadic inclusion body myositis detected by cardiac magnetic resonance imaging

Truncating mutations in FUS / TLS give rise to a more aggressive ALS ‐phenotype than missense mutations: a clinico‐genetic study in G ermany

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