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List of works by Janneke G. J. Hoeijmakers

A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels.

scientific article

Co-morbidity and visual acuity are risk factors for health-related quality of life decline: five-month follow-up EQ-5D data of visually impaired older patients

scientific article

Efficacy, safety, and tolerability of lacosamide in patients with gain-of-function Nav1.7 mutation-related small fiber neuropathy: study protocol of a randomized controlled trial-the LENSS study

scientific article published on 30 June 2016

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

scientific article published on 22 July 2012

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

scientific article (publication date: 22 June 2011)

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

scientific article

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

scientific article published on 27 April 2014

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison

scientific article

Improving assessment in small fiber neuropathy

scientific article

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

scientific article published on 2 December 2011

Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial

scientific article published on 20 July 2016

NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus

scientific article published on 8 August 2013

Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects

scientific article (publication date: August 2015)

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

scientific article published on 11 February 2016

Optimizing temperature threshold testing in small-fiber neuropathy.

scientific article published on 10 January 2015

Painful Diabetic Neuropathy Anxiety Rasch-Transformed Questionnaire (PART-Q30(©) ).

scientific article published on 3 February 2016

Painful neuropathies: the emerging role of sodium channelopathies

scientific article published on June 2014

Painful peripheral neuropathy and sodium channel mutations

scientific article published on 31 December 2014

Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale

scientific article published on 20 October 2015

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

scientific article published on 28 June 2013

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

scientific article published on 26 January 2012

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

scientific article published in August 2013

Small-fibre neuropathies--advances in diagnosis, pathophysiology and management

scientific article

Sodium Channels, Mitochondria, and Axonal Degeneration in Peripheral Neuropathy

scientific article published on 13 April 2016

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

scientific article published on 20 March 2015

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

scientific article published on 04 September 2013

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