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Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

Journal of neurology, 2015-12, Vol.262 (12), p.2776-2779

2015

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A further case with chronic hemolysis, CIDP and lethal cerebral vasculitis due to a CD59 mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S143-S143

2016

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T.I.3 The rationale for immunosuppressive treatment in DMD

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.830-830

Korinthenberg, R

2008

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Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.347-352

2014

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Six minute walk test in type III spinal muscular atrophy: A 12 month longitudinal study

Neuromuscular disorders : NMD, 2013-08, Vol.23 (8), p.624-628

2013

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Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S112-S112

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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Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study

Neuromuscular disorders : NMD, 2013-08, Vol.23 (8), p.624-628

2013

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Teaching Neuroimages: Basal Ganglia Germinoma with Hemiatrophy

Clinical neuroradiology (Munich), 2016-03, Vol.26 (1), p.97-98

2016

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The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S271-S271

2015

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Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

Neurology, 2003-03, Vol.60 (6), p.983

2003

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P.188 - A further case with chronic hemolysis, CIDP and lethal cerebral vasculitis due to a CD59 mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S143-S143

2016

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Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy

Clinical chemistry (Baltimore, Md.), 2001-03, Vol.47 (3), p.451-458

2001

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G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.812-812

2012

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G.P.3.09 Mutation in PDHA1 gene mimicking a Guillain-Barré-Syndrome

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.754-754

2008

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M.P.1.09 TREAT-NMD Clinical Trials Coordination Centre: Efficiency of networking

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.548-549

2009

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The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms

Circulation (New York, N.Y.), 2012-04, Vol.125 (13), p.1626-1634

2012

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Identification of seven novel mutations in the GAN gene

Human mutation, 2003-04, Vol.21 (4), p.446-446

2003

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P3.52 FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.657-657

2010

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High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

Annals of neurology, 1998-05, Vol.43 (5), p.634-639

1998

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Medium-term functional benefits in children with cerebral palsy treated with botulinum toxin type A: 1-year follow-up using gross motor function measure

European journal of neurology, 2001-11, Vol.8 (s5), p.120-126

2001

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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

American journal of human genetics, 2007-07, Vol.81 (1), p.158-164

2007

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T.P.3.08 The TREAT-NMD Clinical Trials Coordination Centre (CTCC)

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.796-796

2008

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

A further case with chronic hemolysis, CIDP and lethal cerebral vasculitis due to a CD59 mutation

T.I.3 The rationale for immunosuppressive treatment in DMD

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Six minute walk test in type III spinal muscular atrophy: A 12 month longitudinal study

Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

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

Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study

Teaching Neuroimages: Basal Ganglia Germinoma with Hemiatrophy

The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development

Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy

P.188 - A further case with chronic hemolysis, CIDP and lethal cerebral vasculitis due to a CD59 mutation

Clinical and Experimental Results on Cardiac Troponin Expression in Duchenne Muscular Dystrophy

G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies

G.P.3.09 Mutation in PDHA1 gene mimicking a Guillain-Barré-Syndrome

M.P.1.09 TREAT-NMD Clinical Trials Coordination Centre: Efficiency of networking

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms

Identification of seven novel mutations in the GAN gene

P3.52 FOR-DMD: double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD)

High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia

Medium-term functional benefits in children with cerebral palsy treated with botulinum toxin type A: 1-year follow-up using gross motor function measure

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

T.P.3.08 The TREAT-NMD Clinical Trials Coordination Centre (CTCC)

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

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