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Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S5-S6

2018

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G.P.256

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.893-894

2014

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P541: The impact of spinal muscular atrophies with regard to patients’ quality of life: a socio-economic analysis of a German patient cohort

Clinical neurophysiology, 2014-06, Vol.125, p.S196-S196

2014

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G.P.166

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.855-855

2014

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Evaluation of Cost Of Illness (COI) and health care burden in Spinal Muscular Atrophies (SMA)

Journal of the neurological sciences, 2013-10, Vol.333, p.e434-e435

2013

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G.P.82

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.819-819

2014

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G.P.123 Identification of molecular effects of FHL1 mutations on protein assembly in reducing body myopathy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.903-903

2012

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EPH77 An Incidence- and Survival-Based Epidemiological Model for the Prevalence of Duchenne Muscular Dystrophy in Nine Countries

Value in health, 2023-12, Vol.26 (12), p.S216

2023

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P5.53 The C224W FHL1 mutation is causing a protein aggregation disorder of muscle: Two brothers revisited

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.740-740

2011

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P75 Muscle MRI findings in LGMD2L

Neuromuscular disorders : NMD, 2011, Vol.21, p.S28-S28

2011

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M.P.1.06 An international registry for FKRP (fukutin-related protein) patients-the first international registry

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.547-548

2009

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P4.27 Muscle MRI findings in anoctaminopathy

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.666-666

2010

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M.P.4.07 Reverse protein arrays for efficient protein diagnosis of muscular dystrophies in less than 10 mg muscle tissue

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.606-606

2009

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P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment

Neuromuscular disorders : NMD, 2011, Vol.21, p.S25-S25

2011

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G.P.14.12 Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.818-819

2008

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P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Neuromuscular disorders : NMD, 2011, Vol.21, p.S24-S25

2011

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D.P.3.05 Molecular pathogenesis of hereditary inclusion body myopathies

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.766-766

2008

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

Neuromuscular disorders : NMD, 2010-03, Vol.20, p.S25-S25

2010

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Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein

Clinical neuropathology, 2007-09, Vol.26 (5), p.232-240

2007

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Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report

Journal of neuromuscular diseases, 2020-01, Vol.7 (4), p.523-534

2020

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MUSCLE IMAGING – MRI: P.168 Broadening fibroadipose replacement pattern in patients with sarcoglycanopathies: towards whole body MRI approaches

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S95-S96

2020

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MUSCLE IMAGING – MRI

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S95-S96

2020

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G.P.256: The German patient registry for inclusion body myositis

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.893-894

2014

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Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

G.P.256

P541: The impact of spinal muscular atrophies with regard to patients’ quality of life: a socio-economic analysis of a German patient cohort

G.P.166

Evaluation of Cost Of Illness (COI) and health care burden in Spinal Muscular Atrophies (SMA)

G.P.82

G.P.123 Identification of molecular effects of FHL1 mutations on protein assembly in reducing body myopathy

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

EPH77 An Incidence- and Survival-Based Epidemiological Model for the Prevalence of Duchenne Muscular Dystrophy in Nine Countries

P5.53 The C224W FHL1 mutation is causing a protein aggregation disorder of muscle: Two brothers revisited

P75 Muscle MRI findings in LGMD2L

M.P.1.06 An international registry for FKRP (fukutin-related protein) patients-the first international registry

P4.27 Muscle MRI findings in anoctaminopathy

M.P.4.07 Reverse protein arrays for efficient protein diagnosis of muscular dystrophies in less than 10 mg muscle tissue

P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment

G.P.14.12 Phenotype of three putative novel limb girdle muscular dystrophies (LGMD) – Exclusion of all known LGMD loci with microsatellite analysis

P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

D.P.3.05 Molecular pathogenesis of hereditary inclusion body myopathies

P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein

Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report

MUSCLE IMAGING – MRI: P.168 Broadening fibroadipose replacement pattern in patients with sarcoglycanopathies: towards whole body MRI approaches

MUSCLE IMAGING – MRI

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

G.P.256: The German patient registry for inclusion body myositis

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