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Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype

European journal of neurology, 2017-03, Vol.24 (3), p.e15-e16

2017

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Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S142-S142

2016

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Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Neurology, 2010-07, Vol.75 (3), p.265

2010

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Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S168-S168

2016

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Assessment of grip strength in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S185-S185

2016

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Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S169-S170

2016

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G.P.80

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.818-819

2014

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Longitudinal study for GNE gene (ClinBio-GNE)

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S281-S281

2015

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ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S169-S169

2016

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New criteria for assessing the achievement of upper limbs in FSHD patients

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S168-S168

2016

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X-linked myotubular myopathy in ambulant patients

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S116-S116

2016

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Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S103-S103

2016

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Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S102-S102

2016

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Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S116-S117

2016

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G.P.133

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.840-841

2014

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NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

Neurology, 2006-03, Vol.66 (5), p.755

2006

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G.O.5

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.793-794

2014

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Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S274-S274

2015

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P.16.12 OPMD from the myoblast’s and fibroblast’s point of view

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.826-826

2013

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T.P.13

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.864-864

2014

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G.P.39

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.806-806

2014

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G.P.106 Immunohistochemical study of cricopharyngeal muscle in oculopharyngeal muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.900-900

2012

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P2.64 Muscle imaging in hereditary inclusion-body myopathy

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.679-679

2011

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Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle

Acta myologica, 2011-10, Vol.30 (2), p.91-95

2011

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P2.45 Proteomic studies of muscle progenitor cells in affected and non-affected oculopharyngeal muscular dystrophy muscles

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.674-674

2011

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Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype

Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring

Assessment of grip strength in Duchenne muscular dystrophy

Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study

G.P.80

Longitudinal study for GNE gene (ClinBio-GNE)

ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy

New criteria for assessing the achievement of upper limbs in FSHD patients

X-linked myotubular myopathy in ambulant patients

Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

G.P.133

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

G.O.5

Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study

P.16.12 OPMD from the myoblast’s and fibroblast’s point of view

T.P.13

G.P.39

G.P.106 Immunohistochemical study of cricopharyngeal muscle in oculopharyngeal muscular dystrophy

P2.64 Muscle imaging in hereditary inclusion-body myopathy

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle

P2.45 Proteomic studies of muscle progenitor cells in affected and non-affected oculopharyngeal muscular dystrophy muscles

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