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Gain-of-function Naᵥ1.8 mutations in painful neuropathy

Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (47), p.19444-19449

2012

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Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

Annals of neurology, 2012-01, Vol.71 (1), p.26-39

2012

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Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study

Journal of the peripheral nervous system, 2010-09, Vol.15 (3), p.202-207

2010

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The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

Neuromolecular medicine, 2015-06, Vol.17 (2), p.158-169

2015

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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

PloS one, 2016-02, Vol.11 (2), p.e0148316-e0148316

2016

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Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

PloS one, 2021-03, Vol.16 (3), p.e0248250-e0248250

2021

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Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy

Brain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2613-2628

2012

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Monitoring Clinical Course and Treatment Response in Chronic Inflammatory Demyelinating Polyneuropathy During Routine Care: A Review of Clinical and Laboratory Assessment Measures

JAMA neurology, 2020-09, Vol.77 (9), p.1159

2020

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Gain-of-function mutations in sodium channel Nav1.9 in painful neuropathy

Brain (London, England : 1878), 2014-06, Vol.137 (6), p.1627-1642

2014

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Measures of chemotherapy-induced peripheral neuropathy: a systematic review of psychometric properties

Journal of the peripheral nervous system, 2010-12, Vol.15 (4), p.314-325

2010

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Small‐fiber neuropathy: Expanding the clinical pain universe

Journal of the peripheral nervous system, 2019-03, Vol.24 (1), p.19-33

2019

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Chronic inflammatory demyelinating polyneuropathy disease activity status: recommendations for clinical research standards and use in clinical practice

Journal of the peripheral nervous system, 2010-12, Vol.15 (4), p.326-333

2010

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Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands

Neurology, 2013-10, Vol.81 (15), p.1356

2013

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Rasch-ionale for neurologists

Journal of the peripheral nervous system, 2015-09, Vol.20 (3), p.260-268

2015

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Challenges of clinical trial design when there is lack of clinical equipoise: use of a response-conditional crossover design

Journal of neurology, 2012-02, Vol.259 (2), p.348-352

2012

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Small fibers, large impact: Quality of life in small-fiber neuropathy

Muscle & nerve, 2014-03, Vol.49 (3), p.329-336

2014

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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

Journal of cardiovascular magnetic resonance, 2012-07, Vol.14 (1), p.48-48, Article 48

2012

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The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS©)

Journal of the peripheral nervous system, 2015-09, Vol.20 (3), p.319-327

2015

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Temperature threshold testing: a systematic review

Journal of the peripheral nervous system, 2013-03, Vol.18 (1), p.7-18

2013

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Minimal clinically important difference in myasthenia gravis: Outcomes from a randomized trial

Muscle & nerve, 2014-05, Vol.49 (5), p.661-665

2014

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Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

Journal of neurology, 2020-11, Vol.267 (11), p.3235-3242

2020

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Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy

Journal of the peripheral nervous system, 2014-06, Vol.19 (2), p.104-114

2014

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Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scale

Journal of the peripheral nervous system, 2009-12, Vol.14 (4), p.268-278

2009

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Neuropathy-associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons

Annals of neurology, 2013-01, Vol.73 (1), p.140-145

2013

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Gain-of-function Naᵥ1.8 mutations in painful neuropathy

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study

The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy

Monitoring Clinical Course and Treatment Response in Chronic Inflammatory Demyelinating Polyneuropathy During Routine Care: A Review of Clinical and Laboratory Assessment Measures

Gain-of-function mutations in sodium channel Nav1.9 in painful neuropathy

Measures of chemotherapy-induced peripheral neuropathy: a systematic review of psychometric properties

Small‐fiber neuropathy: Expanding the clinical pain universe

Chronic inflammatory demyelinating polyneuropathy disease activity status: recommendations for clinical research standards and use in clinical practice

Incidence and prevalence of small-fiber neuropathy: a survey in the Netherlands

Rasch-ionale for neurologists

Challenges of clinical trial design when there is lack of clinical equipoise: use of a response-conditional crossover design

Small fibers, large impact: Quality of life in small-fiber neuropathy

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS©)

Temperature threshold testing: a systematic review

Minimal clinically important difference in myasthenia gravis: Outcomes from a randomized trial

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy

Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scale

Neuropathy-associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons

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