Publications by authors named "Catharina G Faber"

100Publications

Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy.

Int J Rehabil Res 2020 Nov 12. Epub 2020 Nov 12.

Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht.

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November 2020

Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.

Europace 2020 Nov 5. Epub 2020 Nov 5.

Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center+, Maastricht, The Netherlands.

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November 2020

Diagnosis of Neuropathy and Risk Factors for Corneal Nerve Loss in Type 1 and Type 2 Diabetes: A Corneal Confocal Microscopy Study.

Diabetes Care 2021 Jan 3;44(1):150-156. Epub 2020 Nov 3.

Institute of Cardiovascular Sciences, Cardiac Centre, Faculty of Medical and Human Sciences, The University of Manchester and NIHR/Wellcome Trust Clinical Research Facility, Manchester, U.K.

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January 2021

Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.

Sci Rep 2020 10 21;10(1):17930. Epub 2020 Oct 21.

Dipartimento di Scienze Ambientali, Informatica e Statistica, Universitá Ca' Foscari Venezia, Venezia-Mestre, Italy.

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October 2020

Idiopathic distal sensory polyneuropathy: ACTTION diagnostic criteria.

Neurology 2020 12 14;95(22):1005-1014. Epub 2020 Oct 14.

From the Beth Israel Deaconess Medical Center (R.F., C.G.), Harvard Medical School, MA; University of Rochester Medical Center (J.S.G., R.H.D., D.N.H.), Rochester, NY; Department of Neurology (C.G.F.), School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, the Netherlands; Department of Anesthesiology (S.H.), Washington University in St. Louis School of Medicine, St. Louis, MO; Neuroalgology Unit (G.L.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan, Italy; Department of Biomedical and Clinical Sciences "Luigi Sacco" (G.L.), University of Milan,Milan, Italy; Phoenix Neurological Associates (T.L.), Phoenix, AZ; Weill Cornell Medicine-Qatar (R.A.M.), Qatar Foundation, Education City, Doha, Qatar; University of Utah (J.R.S.), Salt Lake City, UT; Virginia Commonwealth University (A.G.S.), Richmond, VA; Biogen (J.B.), Cambridge, MA; University of Michigan (E.F.), Ann Arbor, MI; Johns Hopkins School of Medicine (A.H., M.P.), Baltimore, MD; University of Vermont (N.K.), Burlington, VT; Chromocell Corp (H.M.), North Brunswick, NJ; Harvard Medical School (A.L.O.), Boston, MA; Departments of Neurology and Medicine (A.P.), and Vanderbilt Heart and Vascular Institute, Nashville, TN; NuFactor Specialty Pharmacy (E.R.), Temecula, CA; University of Maryland (J.W.R.), Baltimore, MD; Aptinyx (S.S.), INC., Evanston. IL; Amgen (D.S.), Cambridge, MA; University of Haifa (R.T.), Haifa, Israel; and University of Würzburg (N.Ü.), Würzburg, Germany.

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December 2020

Vibration threshold in non-diabetic subjects.

PLoS One 2020 7;15(10):e0237733. Epub 2020 Oct 7.

Department of Neurosurgery, University Medical Center Groningen and University of Groningen, Groningen, the Netherlands.

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November 2020

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

J Neurol 2020 Nov 15;267(11):3235-3242. Epub 2020 Jun 15.

Department of Neuropediatrics and Muscle Disorders, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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November 2020

Cumulative hydropathic topology of a voltage-gated sodium channel at atomic resolution.

Proteins 2020 10 13;88(10):1319-1328. Epub 2020 Jun 13.

Department of Genetics and Cell Biology, Section Clinical Genomics, Maastricht University, Maastricht, the Netherlands.

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October 2020

Swallow-related quality of life and oropharyngeal dysphagia in myotonic dystrophy.

Eur Arch Otorhinolaryngol 2020 Aug 15;277(8):2357-2362. Epub 2020 Apr 15.

Department of Otorhinolaryngology, Head and Neck Surgery, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

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August 2020

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

Eur J Hum Genet 2020 07 12;28(7):956-962. Epub 2020 Mar 12.

Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.

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July 2020

Corneal confocal microscopy detects small nerve fibre damage in patients with painful diabetic neuropathy.

Sci Rep 2020 02 25;10(1):3371. Epub 2020 Feb 25.

Division of Cardiovascular Sciences, Cardiac Centre, Faculty of Medical and Human Sciences, University of Manchester and NIHR/Wellcome Trust Clinical Research Facility, Manchester, UK.

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February 2020

Activities of daily living in myotonic dystrophy type 1.

Acta Neurol Scand 2020 May 21;141(5):380-387. Epub 2020 Jan 21.

Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Centre-University of Freiburg, Freiburg, Germany.

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May 2020

Dystrophin is expressed in smooth muscle and afferent nerve fibers in the rat urinary bladder.

Muscle Nerve 2019 08 7;60(2):202-210. Epub 2019 Jun 7.

Department of Neurology, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands.

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August 2019

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.

Mitochondrion 2019 07 22;47:273-281. Epub 2019 Jan 22.

Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, P.O. Box 616, 6200 MD, Maastricht, The Netherlands.; MHeNs School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.. Electronic address:

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July 2019

Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial.

Brain 2019 02;142(2):263-275

Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.

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February 2019

Small-fiber neuropathy: Expanding the clinical pain universe.

J Peripher Nerv Syst 2019 03 8;24(1):19-33. Epub 2019 Jan 8.

Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Centre+, Maastricht, The Netherlands.

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March 2019

The Pain Dynamics of Small Fiber Neuropathy.

J Pain 2019 06 8;20(6):655-663. Epub 2018 Dec 8.

Department of Neurology, Maastricht University Medical Center+, 6202 AZ Maastricht, the Netherlands. Electronic address:

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June 2019

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.

Exp Neurol 2019 01 11;311:257-264. Epub 2018 Oct 11.

Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands; GROW-School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.

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January 2019

Methylphenidate use in males with Duchenne muscular dystrophy and a comorbid attention-deficit hyperactivity disorder.

Eur J Paediatr Neurol 2019 Jan 21;23(1):152-157. Epub 2018 Sep 21.

Kempenhaeghe Centre for Neurological Learning Disabilities, Heeze, the Netherlands; Maastricht University Medical Centre, Department of Neurology, School for Mental Health and Neuroscience, Maastricht, the Netherlands; Duchenne Centre Netherlands, the Netherlands.

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January 2019

Greater corneal nerve loss at the inferior whorl is related to the presence of diabetic neuropathy and painful diabetic neuropathy.

Sci Rep 2018 02 19;8(1):3283. Epub 2018 Feb 19.

Institute of Cardiovascular Sciences, Cardiac Centre, Faculty of Medical and Human Sciences, University of Manchester and NIHR/Wellcome Trust Clinical Research Facility, Manchester, UK.

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February 2018

Quality of life in inflammatory neuropathies: the IN-QoL.

J Neurol Neurosurg Psychiatry 2018 03 6;89(3):256-262. Epub 2017 Oct 6.

Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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March 2018

A Trial-Based Economic Evaluation Comparing Spinal Cord Stimulation With Best Medical Treatment in Painful Diabetic Peripheral Neuropathy.

J Pain 2017 04 11;18(4):405-414. Epub 2016 Dec 11.

Department of Clinical Epidemiology and Medical Technology, Maastricht University Medical Centre+, Maastricht, The Netherlands; CAPHRI School of Public Health and Primary Care, Maastricht University, Maastricht, The Netherlands.

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April 2017

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

Trials 2016 07 20;17(1):330. Epub 2016 Jul 20.

Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

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July 2016

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.

Trials 2016 06 30;17(1):306. Epub 2016 Jun 30.

Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, P. Debijelaan 25, P.O. Box 5800, 6202, AZ, Maastricht, The Netherlands.

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June 2016

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands.

Neuromuscul Disord 2016 07 21;26(7):447-52. Epub 2016 Apr 21.

Department of Neurology, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address:

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July 2016

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

J Peripher Nerv Syst 2016 06;21(2):96-104

Adelante Centre of Expertise in Rehabilitation and Audiology, Department of Rehabilitation Medicine, Hoensbroek, The Netherlands.

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June 2016

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

PLoS One 2015 20;10(10):e0139944. Epub 2015 Oct 20.

Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands.

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June 2016

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

Drugs Aging 2015 Aug;32(8):611-21

Department of Anesthesiology and Pain Medicine, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands.

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August 2015

Sustained Treatment Effect of Spinal Cord Stimulation in Painful Diabetic Peripheral Neuropathy: 24-Month Follow-up of a Prospective Two-Center Randomized Controlled Trial.

Diabetes Care 2015 Sep 26;38(9):e132-4. Epub 2015 Jun 26.

Department of Anesthesiology and Pain Medicine, Maastricht University Medical Centre, Maastricht, the Netherlands Department of Anesthesiology, Free University of Amsterdam, Amsterdam, the Netherlands

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September 2015

Rasch-ionale for neurologists.

J Peripher Nerv Syst 2015 Sep;20(3):260-8

Institute of Neuroscience (IoNS), Université catholique de Louvain.

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September 2015

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

J Peripher Nerv Syst 2015 Sep;20(3):319-27

Unidade Clinica de Paramiloidose, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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September 2015

Improving assessment in small fiber neuropathy.

J Peripher Nerv Syst 2015 Sep;20(3):333-40

Department of Neurology, Maastricht University Medical Center, PO Box 5800, 6202 AZ, Maastricht, The Netherlands.

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September 2015

Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin.

Mol Pain 2015 May 9;11:26. Epub 2015 May 9.

Center for Neuroscience & Regeneration Research, Yale University School of Medicine, West Haven, CT, 06516, USA.

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May 2015

Peripheral neuropathies: Moving closer to mechanism.

Neurosci Lett 2015 Jun 24;596:1-2. Epub 2015 Feb 24.

Department of Neurology, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands; Department of Neurology, Spaarne Hospital, 2130 AT, Hoofddorp, The Netherlands. Electronic address:

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June 2015

Advances in diagnostics and outcome measures in peripheral neuropathies.

Neurosci Lett 2015 Jun 19;596:3-13. Epub 2015 Feb 19.

3rd Neurology Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy. Electronic address:

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June 2015

Painful peripheral neuropathy and sodium channel mutations.

Neurosci Lett 2015 Jun 31;596:51-9. Epub 2014 Dec 31.

Department of Neurology, Yale University School of Medicine, New Haven, CT 06515, USA; Center for Neuroscience and Regeneration Research, Veterans Affairs Medical Center, West Haven, CT 06515, USA. Electronic address:

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June 2015

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness.

Neurology 2014 Dec 5;83(23):2124-32. Epub 2014 Nov 5.

From the Department of Neurology (T.H.P.D., E.K.V., C.G.F., I.S.J.M.), University Medical Centre Maastricht; Department of Neurology (S.I.v.N., P.A.v.D.), Erasmus Medical Centre Rotterdam, the Netherlands; Department of Neurology (K.C.G.), St. Elizabeth's Medical Center, Tufts University School of Medicine, Boston, MA; Department of Neurology (W.L.V.d.P., N.C.N., L.H.v.d.B.), Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht, the Netherlands; Department of Neurological Sciences (E.N.-O.), Milan University, Humanitas Clinical Institute, Rozzano, Milan, Italy; Department of Neurology (J.M.L.), Hôpital de la Salpêtrière, Paris, France; Department of Neurology (P.Y.K.V.d.B.), Catholique University of Louvain, Belgium; Department of Clinical Neurosciences (G.L.), 3rd Neurology Unit, Milan, Italy; Department of Neurology (V.B., H.K.), Toronto General Hospital, Canada; Department of Neurology (M.P.T.L.), Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Neurology (J.P.), Centre de Référence des Maladies Neuromusculaires et de la SLA, Hôpital de La Timone, Marseille, France; Department of Neurology (A.J.v.d.K.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Neurology (A.F.H.), London Health Science Center, London, Canada; Department of Neurology (D.R.C.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology (I.S.J.M.), Spaarne Hospital, Hoofddorp, the Netherlands.

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December 2014

[Chemotherapy-induced peripheral neuropathy; impact on quality of life].

Ned Tijdschr Geneeskd 2014 ;158:A7455

Maxima Medisch Centrum, afd. Interne geneeskunde, Veldhoven en Eindhoven.

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April 2015

Optimizing temperature threshold testing in small-fiber neuropathy.

Muscle Nerve 2015 Jun 10;51(6):870-6. Epub 2015 Jan 10.

Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands.

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June 2015

Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES).

Neuromuscul Disord 2014 Dec 10;24(12):1054-62. Epub 2014 Jun 10.

Department of Otorhinolaryngology, Head and Neck Surgery, Maastricht University Medical Center, Maastricht, The Netherlands.

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December 2014

Painful neuropathies: the emerging role of sodium channelopathies.

J Peripher Nerv Syst 2014 Jun;19(2):53-65

Department of Anesthesiology and Pain Management, Maastricht University Medical Center, Maastricht, The Netherlands.

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June 2014

Spinal cord stimulation and pain relief in painful diabetic peripheral neuropathy: a prospective two-center randomized controlled trial.

Diabetes Care 2014 Nov 11;37(11):3016-24. Epub 2014 Sep 11.

Department of Anesthesiology and Pain Medicine, Maastricht University Medical Centre, Maastricht, the Netherlands Department of Anesthesiology, Free University of Amsterdam, Amsterdam, the Netherlands

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November 2014

The role of sodium channels in painful diabetic and idiopathic neuropathy.

Curr Diab Rep 2014 Oct;14(10):538

Neuroalgology and Headache Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Via Celoria, 11, 20133, Milan, Italy,

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October 2014

Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?

Trends Mol Med 2014 Oct 5;20(10):544-50. Epub 2014 Jul 5.

Department of Neurology, Yale University School of Medicine, New Haven, CT 06515, USA; Center for Neuroscience and Regeneration Research, Veterans Affairs Medical Center, West Haven, CT 06515, USA. Electronic address:

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October 2014

Paroxysmal itch caused by gain-of-function Nav1.7 mutation.

Pain 2014 Sep 10;155(9):1702-1707. Epub 2014 May 10.

Neurological Unit, University-Hospital "S. Maria della Misericordia", Udine, Italy Neuroalgology and Headache Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, and Center for Neuroscience and Regeneration Research, Veterans Affairs Medical Center, West Haven, CT, USA.

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September 2014

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

Brain 2014 Jun 27;137(Pt 6):1627-42. Epub 2014 Apr 27.

1 Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, and Centre for Neuroscience and Regeneration Research, Veterans Affairs Medical Centre, West Haven, CT 06516, USA

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June 2014

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

Neurology 2013 Oct 30;81(15):1356-60. Epub 2013 Aug 30.

From the Department of Neurology (M.J.H.P., M.B., I.S.J.M., J.G.J.H., E.P.M.v.R., C.G.F.), Maastricht University Medical Center, Maastricht; and Department of Neurology (I.S.J.M.), Spaarne Hospital, Hoofddorp, the Netherlands.

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October 2013

196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8-10 February 2013, Naarden, The Netherlands.

Neuromuscul Disord 2013 Nov 5;23(11):924-33. Epub 2013 Jul 5.

Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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November 2013

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

Muscle Nerve 2014 Mar 28;49(3):329-36. Epub 2013 Jun 28.

Department of Neurology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

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March 2014

An overview of predictors for persistent neuropathic pain.

Expert Rev Neurother 2013 May;13(5):505-13

Department of Anesthesiology, VU University Medical Center, Amsterdam, The Netherlands.

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May 2013

Temperature threshold testing: a systematic review.

J Peripher Nerv Syst 2013 Mar;18(1):7-18

Department of Neurology Maastricht University Medical Center, Maastricht, The Netherlands.

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March 2013

Diagnosis of neuropathic pain: challenges and possibilities.

Expert Opin Med Diagn 2012 Mar 23;6(2):89-93. Epub 2012 Feb 23.

"Carlo Besta" Neurological Institute, Neuromuscular Diseases Unit, IRCCS Foundation , Via Celoria, 11, 20133, Milan , Italy +39 02 2394 2378 ; +39 02 2394 4057 ;

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March 2012

Teaching Video NeuroImages: sodium channel myotonia can present with stridor.

Neurology 2013 Mar;80(10):e108

Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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March 2013

Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.

Ann Neurol 2013 Jan 31;73(1):140-5. Epub 2012 Dec 31.

Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.

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January 2013

Fatigue in immune-mediated neuropathies.

Neuromuscul Disord 2012 Dec;22 Suppl 3:S203-7

Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands.

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December 2012

Fatigue and daytime sleepiness scale in myotonic dystrophy type 1.

Muscle Nerve 2013 Jan 5;47(1):89-95. Epub 2012 Oct 5.

Department of Neurology, Maastricht University Medical Centre P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

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January 2013

Small fibre neuropathy.

Curr Opin Neurol 2012 Oct;25(5):542-9

Neuromuscular Diseases Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.

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October 2012

Outcome measures in peripheral neuropathies: requirements through statements.

Curr Opin Neurol 2012 Oct;25(5):556-63

Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands.

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October 2012

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

Nat Rev Neurol 2012 May 29;8(7):369-79. Epub 2012 May 29.

Department of Neurology, University Medical Center Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands.

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May 2012

Small fiber neuropathy in Fabry disease.

Mol Genet Metab 2012 Jun 24;106(2):135-41. Epub 2012 Mar 24.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands.

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June 2012

[Small fibre neuropathy: knowledge is power].

Ned Tijdschr Geneeskd 2012 ;156(7):A4224

Maastricht Universitair Medisch Centrum, Maastricht, the Netherlands.

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March 2012

Spinal cord stimulation in complex regional pain syndrome type I of less than 12-month duration.

Neuromodulation 2012 Mar-Apr;15(2):144-50; discussion 150. Epub 2012 Feb 13.

Department of Anesthesiology and Pain Therapy, St Elisabeth Hospital, Tilburg, The Netherlands.

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August 2012