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Muscle histology vs MRI in Duchenne muscular dystrophy

Neurology, 2011-01, Vol.76 (4), p.346

2011

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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.195-205

2013

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SEPN1-related myopathies: clinical course in a large cohort of patients

Neurology, 2011-06, Vol.76 (24), p.2073

2011

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Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Revue neurologique, 2020-12, Vol.176 (10), p.846-855

2020

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Discovery of biomarkers for LGMD2I

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S234-S234

2015

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WES revealed a de-novo missense mutation in the NALCN gene in a Freeman–Sheldon-(DA2A) like syndrome with CNS involvement

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S277-S277

2015

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Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S163-S164

2016

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Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S165-S165

2016

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DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S119-S119

2016

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Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

Neurology, 2010-01, Vol.74 (2), p.157

2010

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Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Neuromuscular disorders : NMD, 2012-12, Vol.22 (12), p.1096-1104

2012

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Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

NEUROMUSCULAR DISORDERS, 2017, Vol.27, p.S220-S221

2017

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Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S255-S255

2015

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P17 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S11-S12

2012

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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Biochimica et biophysica acta, 2011-06, Vol.1812 (6), p.691-698

2011

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P10 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2011, Vol.21, p.S9-S9

2011

Volltextzugriff (PDF)

S.P.40 BIO-NMD: Identifying serum miRNAs as biomarkers for diagnosis and monitoring therapeutic interventions in Duchenne Muscular Dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.883-883

2012

Volltextzugriff (PDF)

S.P.41 BIO-NMD: Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.883-884

2012

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G.P.154

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.847-848

2014

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Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy

Child : care, health & development, 2013-05, Vol.39 (3), p.449-455

2013

Volltextzugriff (PDF)

P08 Exploring emotional impact in a proof-of-principle single-blind, controlled, two-doses escalation intramuscular study of a morpholino splice-switching oligonucleotide (AVI-4658) trial to induce dystrophin restoration in children with Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2010, Vol.20, p.S7-S7

2010

Volltextzugriff (PDF)

P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.758-758

2013

Volltextzugriff (PDF)

P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.772-772

2013

Volltextzugriff (PDF)

O.16 Current progress and preliminary results with the systemic administration trial of AVI-4658, a novel phosphorodiamidate morpholino oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD)

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.639-640

2010

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P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S31-S31

2012

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Muscle histology vs MRI in Duchenne muscular dystrophy

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

SEPN1-related myopathies: clinical course in a large cohort of patients

Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Discovery of biomarkers for LGMD2I

WES revealed a de-novo missense mutation in the NALCN gene in a Freeman–Sheldon-(DA2A) like syndrome with CNS involvement

Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review

Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo

Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

P17 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

P10 Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

S.P.40 BIO-NMD: Identifying serum miRNAs as biomarkers for diagnosis and monitoring therapeutic interventions in Duchenne Muscular Dystrophy

S.P.41 BIO-NMD: Identifying genomic pre-clinical biomarkers for diagnostics and therapeutics of Duchenne muscular dystrophy

G.P.154

Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy

P08 Exploring emotional impact in a proof-of-principle single-blind, controlled, two-doses escalation intramuscular study of a morpholino splice-switching oligonucleotide (AVI-4658) trial to induce dystrophin restoration in children with Duchenne muscular dystrophy

P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing

P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series

O.16 Current progress and preliminary results with the systemic administration trial of AVI-4658, a novel phosphorodiamidate morpholino oligomer (PMO) skipping dystrophin exon 51 in Duchenne muscular dystrophy (DMD)

P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

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