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Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.
Published in:
2020
By:
- Labau, Julie I R;
- Estacion, Mark;
- Tanaka, Brian S;
- Greef, Bianca T A de;
- Hoeijmakers, Janneke G J;
- Geerts, Margot;
- Gerrits, Monique M;
- Smeets, Hubert J M;
- Faber, Catharina G;
- Merkies, Ingemar S J;
- Lauria, Giuseppe;
- Dib-Hajj, Sulayman D;
- Waxman, Stephen G;
- Labau, Julie Ir;
- de Greef, Bianca Ta;
- Hoeijmakers, Janneke Gj;
- Smeets, Hubert Jm;
- Merkies, Ingemar Sj;
- de Greef, Bianca T A
Publication type:
journal article
COL6A5 variants in familial neuropathic chronic itch.
Published in:
2017
By:
- Martinelli-Boneschi, Filippo;
- Colombi, Marina;
- Castori, Marco;
- Devigili, Grazia;
- Eleopra, Roberto;
- Malik, Rayaz A.;
- Ritelli, Marco;
- Zoppi, Nicoletta;
- Dordoni, Chiara;
- Sorosina, Melissa;
- Grammatico, Paola;
- Fadavi, Hassan;
- Gerrits, Monique M.;
- Almomani, Rowida;
- Faber, Catharina G.;
- Merkies, Ingemar S. J.;
- Toniolo, Daniela;
- Cocca, Massimiliano;
- Doglioni, Claudio;
- Waxman, Stephen G.
Publication type:
journal article
Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14095, doi. 10.3390/ijms232214095
By:
- Ślęczkowska, Milena;
- Almomani, Rowida;
- Marchi, Margherita;
- Salvi, Erika;
- de Greef, Bianca T A;
- Sopacua, Maurice;
- Hoeijmakers, Janneke G J;
- Lindsey, Patrick;
- Waxman, Stephen G;
- Lauria, Giuseppe;
- Faber, Catharina G;
- Smeets, Hubert J M;
- Gerrits, Monique M
Publication type:
Article
Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7190, doi. 10.3390/ijms23137190
By:
- Ślęczkowska, Milena;
- Almomani, Rowida;
- Marchi, Margherita;
- de Greef, Bianca T. A.;
- Sopacua, Maurice;
- Hoeijmakers, Janneke G. J.;
- Lindsey, Patrick;
- Salvi, Erika;
- Bönhof, Gidon J.;
- Ziegler, Dan;
- Malik, Rayaz A.;
- Waxman, Stephen G.;
- Lauria, Giuseppe;
- Faber, Catharina G.;
- Smeets, Hubert J. M.;
- Gerrits, Monique M.
Publication type:
Article
Quasispecies Development of Helicobacter pylori Observed in Paired Isolates Obtained Years...
Published in:
Journal of Infectious Diseases, 2000, v. 181, n. 1, p. 273
By:
- Kulpers, Ernst J.;
- Israel, Dawn A.;
- Kusters, Johannes G.;
- Gerrits, Monique M.;
- Weel, Jan;
- van der Ende, Arie;
- van der Hulst, Rene W.M.;
- Wirth, Hans P.;
- Hook-Nikanne, Johanna;
- Thompson, Stuart A.;
- Blaser, Martin J.
Publication type:
Article
Multiple Mutations in or Adjacent to the Conserved Penicillin-Binding Protein Motifs of the Penicillin-Binding Protein 1A Confer Amoxicillin Resistance to Helicobacter pylori.
Published in:
Helicobacter, 2006, v. 11, n. 3, p. 181, doi. 10.1111/j.1523-5378.2006.00398.x
By:
- Gerrits, Monique M.;
- Godoy, Anita P. O.;
- Kuipers, Ernst J.;
- Ribeiro, Marcelo L.;
- Stoof, Jeroen;
- Mendonça, Sergio;
- van Vliet, Arnoud H. M.;
- Pedrazzoli, Jos;
- Kusters, Johannes G.
Publication type:
Article
Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
Published in:
2021
By:
- Almomani, Rowida;
- Marchi, Margherita;
- Sopacua, Maurice;
- Lindsey, Patrick;
- Salvi, Erika;
- de Koning, Bart;
- Santoro, Silvia;
- Magri, Stefania;
- Smeets, Hubert J. M.;
- Boneschi, Filippo Martinelli;
- Malik, Rayaz A.;
- Ziegler, Dan;
- Hoeijmakers, Janneke G. J.;
- Bönhof, Gidon;
- Dib-Hajj, Sulayman;
- Waxman, Stephen G.;
- Merkies, Ingemar S. J.;
- Lauria, Giuseppe;
- Faber, Catharina G.;
- Gerrits, Monique M.
Publication type:
Correction Notice
A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy.
Published in:
Molecular Pain, 2019, v. 15, p. 1, doi. 10.1177/1744806919849802
By:
- Alsaloum, Matthew;
- Estacion, Mark;
- Almomani, Rowida;
- Gerrits, Monique M.;
- Bönhof, Gidon J.;
- Ziegler, Dan;
- Malik, Rayaz;
- Ferdousi, Maryam;
- Lauria, Giuseppe;
- Merkies, Ingemar S. J.;
- Faber, Catharina G.;
- Dib-Hajj, Sulayman;
- Waxman, Stephen G.
Publication type:
Article
Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
Published in:
PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238467
By:
- Almomani, Rowida;
- Marchi, Margherita;
- Sopacua, Maurice;
- Lindsey, Patrick;
- Salvi, Erika;
- Koning, Bart de;
- Santoro, Silvia;
- Magri, Stefania;
- Smeets, Hubert J. M.;
- Martinelli Boneschi, Filippo;
- Malik, Rayaz R.;
- Ziegler, Dan;
- Hoeijmakers, Janneke G. J.;
- Bönhof, Gidon;
- Dib-Hajj, Sulayman;
- Waxman, Stephen G.;
- Merkies, Ingemar S. J.;
- Lauria, Giuseppe;
- Faber, Catharina G.;
- Gerrits, Monique M.
Publication type:
Article
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.
Published in:
2014
By:
- Huang, Jianying;
- Han, Chongyang;
- Estacion, Mark;
- Vasylyev, Dymtro;
- Hoeijmakers, Janneke G J;
- Gerrits, Monique M;
- Tyrrell, Lynda;
- Lauria, Giuseppe;
- Faber, Catharina G;
- Dib-Hajj, Sulayman D;
- Merkies, Ingemar S J;
- Waxman, Stephen G;
- PROPANE Study Group
Publication type:
journal article
Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1627, doi. 10.1093/brain/awu079
By:
- Huang, Jianying;
- Han, Chongyang;
- Estacion, Mark;
- Vasylyev, Dymtro;
- Hoeijmakers, Janneke G. J.;
- Gerrits, Monique M.;
- Tyrrell, Lynda;
- Lauria, Giuseppe;
- Faber, Catharina G.;
- Dib-Hajj, Sulayman D.;
- Merkies, Ingemar S. J.;
- Waxman, Stephen G.
Publication type:
Article
Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2613, doi. 10.1093/brain/aws187
By:
- Han, Chongyang;
- Hoeijmakers, Janneke G. J.;
- Liu, Shujun;
- Gerrits, Monique M.;
- te Morsche, Rene H. M.;
- Lauria, Giuseppe;
- Dib-Hajj, Sulayman D.;
- Drenth, Joost P. H.;
- Faber, Catharina G.;
- Merkies, Ingemar S. J.;
- Waxman, Stephen G.
Publication type:
Article
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.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 345, doi. 10.1093/brain/awr349
By:
- Hoeijmakers, Janneke G. J.;
- Han, Chongyang;
- Merkies, Ingemar S. J.;
- Macala, Lawrence J.;
- Lauria, Giuseppe;
- Gerrits, Monique M.;
- Dib-Hajj, Sulayman D.;
- Faber, Catharina G.;
- Waxman, Stephen G.
Publication type:
Article
Gain of function Na<sub>V</sub>1.7 mutations in idiopathic small fiber neuropathy.
Published in:
Annals of Neurology, 2012, v. 71, n. 1, p. 26, doi. 10.1002/ana.22485
By:
- Faber, Catharina G.;
- Hoeijmakers, Janneke G. J.;
- Ahn, Hye-Sook;
- Cheng, Xiaoyang;
- Han, Chongyang;
- Choi, Jin-Sung;
- Estacion, Mark;
- Lauria, Giuseppe;
- Vanhoutte, Els K.;
- Gerrits, Monique M.;
- Dib-Hajj, Sulayman;
- Drenth, Joost P. H.;
- Waxman, Stephen G.;
- Merkies, Ingemar S. J.
Publication type:
Article
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
Published in:
PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148316
By:
- de Greef, Bianca T. A.;
- Hoeijmakers, Janneke G. J.;
- Wolters, Emma E.;
- Smeets, Hubertus J. M.;
- van den Wijngaard, Arthur;
- Merkies, Ingemar S. J.;
- Faber, Catharina G.;
- Gerrits, Monique M.
Publication type:
Article
Ion Channel Genes in Painful Neuropathies.
Published in:
Biomedicines, 2023, v. 11, n. 10, p. 2680, doi. 10.3390/biomedicines11102680
By:
- Ślęczkowska, Milena;
- Misra, Kaalindi;
- Santoro, Silvia;
- Gerrits, Monique M.;
- Hoeijmakers, Janneke G. J.
Publication type:
Article
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7248, doi. 10.3390/ijms25137248
By:
- Misra, Kaalindi;
- Ślęczkowska, Milena;
- Santoro, Silvia;
- Gerrits, Monique M.;
- Mascia, Elisabetta;
- Marchi, Margherita;
- Salvi, Erika;
- Smeets, Hubert J. M.;
- Hoeijmakers, Janneke G. J.;
- Martinelli Boneschi, Filippo Giovanni;
- Filippi, Massimo;
- Lauria Pinter, Giuseppe;
- Faber, Catharina G.;
- Esposito, Federica
Publication type:
Article
Painful neuropathies: the emerging role of sodium channelopathies.
Published in:
Journal of the Peripheral Nervous System, 2014, v. 19, n. 2, p. 53, doi. 10.1111/jns5.12071
By:
- Brouwer, Brigitte A.;
- Merkies, Ingemar S. J.;
- Gerrits, Monique M.;
- Waxman, Stephen G.;
- Hoeijmakers, Janneke G. J.;
- Faber, Catharina G.
Publication type:
Article
Small-Fiber Neuropathy Na<sub>v</sub>1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons.
Published in:
Journal of Neuroscience, 2013, v. 33, n. 35, p. 14087, doi. 10.1523/JNEUROSCI.2710-13.2013
By:
- Jianying Huang;
- Yang Yang;
- Peng Zhao;
- Gerrits, Monique M.;
- Hoeijmakers, Janneke G. J.;
- Bekelaar, Kim;
- Merkies, Ingemar S. J.;
- Faber, Catharina G.;
- Dib-Hajj, Sulayman D.;
- Waxman, Stephen G.
Publication type:
Article
Hydropathicity-based prediction of pain-causing NaV1.7 variants.
Published in:
BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04119-2
By:
- Xenakis, Makros N.;
- Kapetis, Dimos;
- Yang, Yang;
- Gerrits, Monique M.;
- Heijman, Jordi;
- Waxman, Stephen G.;
- Lauria, Giuseppe;
- Faber, Catharina G.;
- Westra, Ronald L.;
- Lindsey, Patrick J.;
- Smeets, Hubert J.
Publication type:
Article

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