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Genetic testing in inherited neuropathies: what and when to test

Journal of the neurological sciences, 2015-10, Vol.357, p.e469-e469

Reilly, M.M

2015

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In vitro models of Charcot-Marie-Tooth disease for investigating disease pathomechanisms

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S27-S28

2017

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Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

Neurology, 2011-07, Vol.77 (2), p.168-173

2011

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Monitoring pregnancy in Charcot-Marie-Tooth disease: results of a survey

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S27-S27

2017

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168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.839-846

2010

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Mitochondrial dysfunction and abnormal calcium handling in cell models of Hereditary Sensory Neuropathy type I

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S25-S26

2017

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A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S24-S24

2017

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Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy

Neuromuscular disorders : NMD, 2015-06, Vol.25 (6), p.511-515

2015

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Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.589-592

2015

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Mitochondrial dysfunction in a treatable childhood neuronopathy

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S24-S25

2017

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Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S25-S25

2017

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Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S24-S24

2017

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P45 Referral patterns to a specialised peripheral neuropathy clinic

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S19-S19

2012

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P51 Neuropathy phenotype in hereditary transthyretin amyloidosis

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S20-S21

2014

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CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barré syndrome

Muscle & nerve, 2009-07, Vol.40 (1), p.42-49

2009

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Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy

European journal of paediatric neurology, 2017-06, Vol.21, p.e232-e232

2017

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Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S1-S1

2017

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Quantification of intramuscular fat accumulation in CMT1A using MRI: an international longitudinal study

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S26-S26

2017

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Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S26-S27

2017

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Functional validation of non-coding variants of GJB1 in patients with CMTX1

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S25-S25

2017

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Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S43-S43

2017

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Hand weakness in Charcot-Marie-Tooth disease 1X

Neuromuscular disorders : NMD, 2012-07, Vol.22 (7), p.622-626

2012

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P36 Texture analysis of muscle MRI changes over 1 year

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S16-S16

2014

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P44 Variation in the disability in males of similar age with CMT1X

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S18-S19

2012

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P84 Colchicine myopathy: Pathological analysis of a case with novel findings

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S30-S30

2012

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Genetic testing in inherited neuropathies: what and when to test

In vitro models of Charcot-Marie-Tooth disease for investigating disease pathomechanisms

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

Monitoring pregnancy in Charcot-Marie-Tooth disease: results of a survey

168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)

Mitochondrial dysfunction and abnormal calcium handling in cell models of Hereditary Sensory Neuropathy type I

A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy

Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy

Mitochondrial dysfunction in a treatable childhood neuronopathy

Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation

Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg

P45 Referral patterns to a specialised peripheral neuropathy clinic

P51 Neuropathy phenotype in hereditary transthyretin amyloidosis

CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barré syndrome

Clinical spectrum, treatment and outcome of children with chronic inflammatory demyelinating polyneuropathy

Modulation of cytoplasmic dynein and tubulin modification as potential therapeutic targets in SMA-LED

Quantification of intramuscular fat accumulation in CMT1A using MRI: an international longitudinal study

Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation

Functional validation of non-coding variants of GJB1 in patients with CMTX1

Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular disease

Hand weakness in Charcot-Marie-Tooth disease 1X

P36 Texture analysis of muscle MRI changes over 1 year

P44 Variation in the disability in males of similar age with CMT1X

P84 Colchicine myopathy: Pathological analysis of a case with novel findings

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