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47 results for Merkies,+Ingemar+S.+J.

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Gain-of-function Naᵥ1.8 mutations in painful neuropathy
Author / Creator:Faber, Catharina G ; Lauria, Giuseppe ; Merkies, Ingemar S. J ; Cheng, Xiaoyang ; Han, Chongyang ; Ahn, Hye-Sook ; Persson, Anna-Karin ; Hoeijmakers, Janneke G. J ; Gerrits, Monique M ; Pierro, Tiziana ; Lombardi, Raffaella ; Kapetis, Dimos ; Dib-Hajj, Sulayman D ; Waxman, Stephen G
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (47), p.19444-19449
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Patient satisfaction and patient accessibility in a small fiber neuropathy diagnostic service in the Netherlands: A single-center, prospective, survey-based cohort study
Author / Creator:Geerts, Margot ; Hoeijmakers, Janneke G J ; Essers, Brigitte A B ; Merkies, Ingemar S J ; Faber, Catharina G ; Goossens, Mariëlle E J B
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-04, Vol.19 (4), p.e0298881-e0298881
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Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-09, Vol.15 (9), p.e0238467
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Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale
Author / Creator:Hermans, Mieke C E ; Hoeijmakers, Janneke G J ; Faber, Catharina G ; Merkies, Ingemar S J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-10, Vol.10 (10), p.e0139944-e0139944
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Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial
Author / Creator:Hughes, Richard AC, MD ; Donofrio, Peter, MD ; Bril, Vera, MD ; Dalakas, Marinos C, MD ; Deng, Chunqin, PhD ; Hanna, Kim, MSc ; Hartung, Hans-Peter, MD ; Latov, Norman, MD ; Merkies, Ingemar SJ, MD ; van Doorn, Pieter A, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2008-02, Vol.7 (2), p.136-144
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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-02, Vol.11 (2), p.e0148316-e0148316
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Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2021-03, Vol.16 (3), p.e0248250-e0248250
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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
Author / Creator:Han, Chongyang ; Yang, Yang ; de Greef, Bianca T. A. ; Hoeijmakers, Janneke G. J. ; Gerrits, Monique M. ; Verhamme, Camiel ; Qu, Jian ; Lauria, Giuseppe ; Merkies, Ingemar S. J. ; Faber, Catharina G. ; Dib-Hajj, Sulayman D. ; Waxman, Stephen G.
Publisher:New York: Springer US
Journal title:Neuromolecular medicine, 2015-06, Vol.17 (2), p.158-169
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Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
Author / Creator:Hermans, Mieke C E ; Faber, Catharina G ; Bekkers, Sebastiaan C A M ; de Die-Smulders, Christine E M ; Gerrits, Monique M ; Merkies, Ingemar S J ; Snoep, Gabriel ; Pinto, Yigal M ; Schalla, Simon
Publisher:England: BioMed Central Ltd
Journal title:Journal of cardiovascular magnetic resonance, 2012-07, Vol.14 (1), p.48-48, Article 54
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ArticlesPeer ReviewedFull Text
Challenges of clinical trial design when there is lack of clinical equipoise: use of a response-conditional crossover design
Author / Creator:Deng, Chunqin ; Hanna, Kim ; Bril, Vera ; Dalakas, Marinos C. ; Donofrio, Peter ; van Doorn, Pieter A. ; Hartung, Hans-Peter ; Merkies, Ingemar S. J.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2012-02, Vol.259 (2), p.348-352
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Change over time in ability to perform activities of daily living in myotonic dystrophy type 1
Author / Creator:Landfeldt, Erik ; Nikolenko, Nikoletta ; Jimenez-Moreno, Cecilia ; Cumming, Sarah ; Monckton, Darren G. ; Faber, Catharina G. ; Merkies, Ingemar S. J. ; Gorman, Grainne ; Turner, Chris ; Lochmüller, Hanns
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-11, Vol.267 (11), p.3235-3242
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Sodium Channel Nav1.7 in Vascular Myocytes, Endothelium, and Innervating Axons in Human Skin
Author / Creator:Rice, Frank L ; Albrecht, Phillip J ; Wymer, James P ; Black, Joel A ; Merkies, Ingemar SJ ; Faber, Catharina G ; Waxman, Stephen G
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Molecular pain, 2015-05, Vol.11, p.26-26
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Development, validation and feasibility of a Patient Satisfaction Questionnaire for evaluating the quality performance of a diagnostic small fibre neuropathy service: A qualitative study
Author / Creator:Geerts, Margot ; Hoeijmakers, Janneke G. J. ; Essers, Brigitte A. B. ; Merkies, Ingemar S. J. ; Faber, Catharina G. ; Goossens, Mariëlle E. J. B.
Publisher:England: John Wiley & Sons, Inc
Journal title:Health expectations : an international journal of public participation in health care and health policy, 2024-04, Vol.27 (2), p.e14011-n/a
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ArticlesPeer ReviewedFull Text
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies
Author / Creator:Almomani, Rowida ; Sopacua, Maurice ; Marchi, Margherita ; Ślęczkowska, Milena ; Lindsey, Patrick ; de Greef, Bianca T A ; Hoeijmakers, Janneke G J ; Salvi, Erika ; Merkies, Ingemar S J ; Ferdousi, Maryam ; Malik, Rayaz A ; Ziegler, Dan ; Derks, Kasper W J ; Boenhof, Gidon ; Martinelli-Boneschi, Filippo ; Cazzato, Daniele ; Lombardi, Raffaella ; Dib-Hajj, Sulayman ; Waxman, Stephen G ; Smeets, Hubert J M ; Gerrits, Monique M ; Faber, Catharina G ; Lauria, Giuseppe ; On Behalf Of The Propane Study Group
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-05, Vol.24 (9), p.8278
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The Role of Sodium Channels in Painful Diabetic and Idiopathic Neuropathy
Author / Creator:Lauria, Giuseppe ; Ziegler, Dan ; Malik, Rayaz ; Merkies, Ingemar S. J. ; Waxman, Stephen G. ; Faber, Catharina G.
Publisher:Boston: Springer US
Journal title:Current diabetes reports, 2014-10, Vol.14 (10), p.538-538, Article 538
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Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use
Author / Creator:Waxman, Stephen G, Prof ; Merkies, Ingemar S J, MD ; Gerrits, Monique M, PhD ; Dib-Hajj, Sulayman D, PhD ; Lauria, Giuseppe, Prof ; Cox, James J, PhD ; Wood, John N, Prof ; Woods, C Geoffrey, Prof ; Drenth, Joost P H, Prof ; Faber, Catharina G, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2014-11, Vol.13 (11), p.1152-1160
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ArticlesPeer ReviewedFull Text
Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial
Author / Creator:de Greef, Bianca T A ; Geerts, Margot ; Hoeijmakers, Janneke G J ; Faber, Catharina G ; Merkies, Ingemar S J
Publisher:England: BioMed Central Ltd
Journal title:Current controlled trials in cardiovascular medicine, 2016-07, Vol.17 (1), p.330-330, Article 330
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Network topology of NaV1.7 mutations in sodium channel-related painful disorders
Author / Creator:Kapetis, Dimos ; Sassone, Jenny ; Yang, Yang ; Galbardi, Barbara ; Xenakis, Markos N ; Westra, Ronald L ; Szklarczyk, Radek ; Lindsey, Patrick ; Faber, Catharina G ; Gerrits, Monique ; Merkies, Ingemar S J ; Dib-Hajj, Sulayman D ; Mantegazza, Massimo ; Waxman, Stephen G ; Lauria, Giuseppe
Publisher:England: BioMed Central Ltd
Journal title:BMC systems biology, 2017-02, Vol.11 (1), p.28, Article 28
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Pain triangle phenomenon in possible association with SCN9A: A case report
Author / Creator:Sopacua, Maurice ; Hoeijmakers, Janneke G. J. ; Kooi, Anneke J. ; Merkies, Ingemar S. J. ; Faber, Catharina G.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-10, Vol.10 (10), p.e2026-n/a
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Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (The PATH Study): study protocol for a randomized controlled trial
Author / Creator:van Schaik, Ivo N ; van Geloven, Nan ; Bril, Vera ; Hartung, Hans-Peter ; Lewis, Richard A ; Sobue, Gen ; Lawo, John-Philip ; Mielke, Orell ; Cornblath, David R ; Merkies, Ingemar S J
Publisher:England: BioMed Central Ltd
Journal title:Current controlled trials in cardiovascular medicine, 2016-07, Vol.17 (1), p.345-345, Article 345
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Showing 1 to 20 of 47 results

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

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Patient satisfaction and patient accessibility in a small fiber neuropathy diagnostic service in the Netherlands: A single-center, prospective, survey-based cohort study

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

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

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Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial

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No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

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

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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

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

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

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

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Sodium Channel Nav1.7 in Vascular Myocytes, Endothelium, and Innervating Axons in Human Skin

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Development, validation and feasibility of a Patient Satisfaction Questionnaire for evaluating the quality performance of a diagnostic small fibre neuropathy service: A qualitative study

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Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies

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The Role of Sodium Channels in Painful Diabetic and Idiopathic Neuropathy

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Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use

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

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Network topology of NaV1.7 mutations in sodium channel-related painful disorders

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Pain triangle phenomenon in possible association with SCN9A: A case report

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Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (The PATH Study): study protocol for a randomized controlled trial

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