J
Janneke G. J. Hoeijmakers
Researcher at Maastricht University
Publications - 69
Citations - 3533
Janneke G. J. Hoeijmakers is an academic researcher from Maastricht University. The author has contributed to research in topics: Medicine & Neuropathic pain. The author has an hindex of 26, co-authored 53 publications receiving 2882 citations.
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Journal ArticleDOI
Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy
Catharina G. Faber,Janneke G. J. Hoeijmakers,Hye Sook Ahn,Hye Sook Ahn,Xiaoyang Cheng,Xiaoyang Cheng,Chongyang Han,Chongyang Han,Jin-Sung Choi,Jin-Sung Choi,Mark Estacion,Mark Estacion,Giuseppe Lauria,Els K. Vanhoutte,Monique M. Gerrits,Sulayman D. Dib-Hajj,Sulayman D. Dib-Hajj,Joost P.H. Drenth,Stephen G. Waxman,Stephen G. Waxman,Ingemar S. J. Merkies +20 more
TL;DR: Screening patients with biopsy‐confirmed idiopathic SFN for mutations in the SCN9A gene, encoding voltage‐gated sodium channel NaV1.7, which is preferentially expressed in small diameter peripheral axons, identifies a genetic basis for I‐SFN.
Journal ArticleDOI
Gain-of-function Nav1.8 mutations in painful neuropathy
Catharina G. Faber,Giuseppe Lauria,Ingemar S. J. Merkies,Xiaoyang Cheng,Xiaoyang Cheng,Chongyang Han,Chongyang Han,Hye Sook Ahn,Hye Sook Ahn,Anna Karin Persson,Anna Karin Persson,Janneke G. J. Hoeijmakers,Monique M. Gerrits,Tiziana Pierro,Raffaella Lombardi,Dimos Kapetis,Sulayman D. Dib-Hajj,Sulayman D. Dib-Hajj,Stephen G. Waxman,Stephen G. Waxman +19 more
TL;DR: Observations suggest that mutations of Nav1.8 contribute to painful peripheral neuropathy by enhancing the channel’s response to depolarization and producing hyperexcitability in DRG neurons.
Journal ArticleDOI
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.
Jianying Huang,Chongyang Han,Mark Estacion,Dymtro Vasylyev,Janneke G. J. Hoeijmakers,Monique M. Gerrits,Lynda Tyrrell,Giuseppe Lauria,Catharina G. Faber,Sulayman D. Dib-Hajj,Ingemar S. J. Merkies,Stephen G. Waxman +11 more
TL;DR: The data show, for the first time, missense mutations of Nav1.9 in individuals with painful peripheral neuropathy, which confer gain-of-function attributes to the channel, depolarize resting membrane potential of dorsal root ganglion neurons, enhance spontaneous firing, and increase evoked firing of these neurons.
Journal ArticleDOI
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.
Harshvardhan Rolyan,Shujun Liu,Janneke G. J. Hoeijmakers,Catharina G. Faber,Ingemar S. J. Merkies,Giuseppe Lauria,Joel A. Black,Stephen G. Waxman +7 more
TL;DR: The present results link energetic stress and reactive oxygen species production with the development of a painful neuropathy that preferentially affects small-diameter axons.
Journal ArticleDOI
Small-fibre neuropathies--advances in diagnosis, pathophysiology and management.
Janneke G. J. Hoeijmakers,Catharina G. Faber,Giuseppe Lauria,Ingemar S. J. Merkies,Stephen G. Waxman +4 more
TL;DR: Recent advances in the diagnosis and pathophysiology of small-fibre neuropathy are discussed, highlighting how improved understanding of these aspects of the disorder will contribute to better patient management.