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Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges

Nature reviews. Neurology, 2019-11, Vol.15 (11), p.644-656

2019

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Charcot-Marie-Tooth disease and related disorders: an evolving landscape

Current opinion in neurology, 2019-10, Vol.32 (5), p.641-650

2019

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Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

Neurology, 2018-02, Vol.90 (6), p.e518

2018

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Recent advances in the genetic neuropathies

Current opinion in neurology, 2016-10, Vol.29 (5), p.537-548

2016

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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Journal of neurology, neurosurgery and psychiatry, 2015-08, Vol.86 (8), p.873-878

2015

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Clinical implications of genetic advances in Charcot-Marie-Tooth disease

Nature reviews. Neurology, 2013-10, Vol.9 (10), p.562-571

2013

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Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study

Neurology, 2012-05, Vol.78 (18), p.1434-1440

2012

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Diagnosis and new treatments in genetic neuropathies

Journal of Neurology, Neurosurgery and Psychiatry, 2009-12, Vol.80 (12), p.1304-1314

2009

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MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

Lancet neurology, 2016, Vol.15 (1), p.65-77

2016

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MFN2 mutations cause severe phenotypes in most patients with CMT2A

Neurology, 2011-05, Vol.76 (20), p.1690-1696

2011

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Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

Journal of neurology, neurosurgery and psychiatry, 2022-06, Vol.93 (6), p.668-678

2022

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Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

Neurology, 2012-05, Vol.78 (22), p.1714-1720

2012

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Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies

Neurology, 2018-01, Vol.90 (1), p.e31

2018

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Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Journal of neurology, neurosurgery and psychiatry, 2012-07, Vol.83 (7), p.706-710

2012

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Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Brain (London, England : 1878), 2019-05, Vol.142 (5), p.1227-1241

2019

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Charcot-Marie-Tooth disease

Journal of the peripheral nervous system, 2011-03, Vol.16 (1), p.1-14

2011

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Inherited Neuropathies

Seminars in neurology, 2015-08, Vol.35 (4), p.407-423

2015

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Nerve conduction velocity in CMT1A: what else can we tell?

European journal of neurology, 2016-10, Vol.23 (10), p.1566-1571

2016

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Differentiating lower motor neuron syndromes

Journal of Neurology, Neurosurgery and Psychiatry, 2017-06, Vol.88 (6), p.474-483

2017

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A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.2673-2680

2020

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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Journal of neurology, neurosurgery and psychiatry, 2017-10, Vol.88 (10), p.846-863

2017

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Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

Journal of the peripheral nervous system, 2019-12, Vol.24 (4), p.314-319

2019

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2904-2910

2020

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Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

Journal of the peripheral nervous system, 2011-09, Vol.16 (3), p.191-198

2011

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Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy

European journal of neurology, 2022-11, Vol.29 (11), p.3347-3357

2022

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Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges

Charcot-Marie-Tooth disease and related disorders: an evolving landscape

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

Recent advances in the genetic neuropathies

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Clinical implications of genetic advances in Charcot-Marie-Tooth disease

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study

Diagnosis and new treatments in genetic neuropathies

MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study

MFN2 mutations cause severe phenotypes in most patients with CMT2A

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Charcot-Marie-Tooth disease

Inherited Neuropathies

Nerve conduction velocity in CMT1A: what else can we tell?

Differentiating lower motor neuron syndromes

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy

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