C. Faber

发表

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

Yang Yang, Catharina G. Faber, Sulayman D. Dib-Hajj, 2015, NeuroMolecular Medicine.

Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1

K. Vernooy, B. V. van Engelen, C. Faber, 2020, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

MYOTONIC DYSTROPHY TYPE 1

B. Engelen, K. Okkersen, C. Faber, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

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

H. Smeets, C. D. de Die-Smulders, D. Hellebrekers, 2020, European Journal of Human Genetics.

Predicting Outcome in Guillain-Barré Syndrome

Hester F. Lingsma, G. Marfia, T. Feasby, 2021, Neurology.

Small‐fiber neuropathy: Expanding the clinical pain universe

S. Waxman, G. Lauria, J. Hoeijmakers, 2019, Journal of the peripheral nervous system : JPNS.

Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition

J. Vles, J. Hoeijmakers, I. Merkies, 2016, Pediatrics.

B. Kremer, W. Pilz, L. Baijens, 2020, European Archives of Oto-Rhino-Laryngology.

Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy

H. Smeets, S. Dib-Hajj, S. Waxman, 2020, Brain : a journal of neurology.

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

S. Dib-Hajj, S. Waxman, J. Hoeijmakers, 2019, Brain : a journal of neurology.

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

H. Smeets, S. Waxman, G. Lauria, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

H. Smeets, E. Wolters, A. van den Wijngaard, 2016, PloS one.

Painful neuropathies: the emerging role of sodium channelopathies

S. Waxman, J. Hoeijmakers, M. Gerrits, 2014, Journal of the peripheral nervous system : JPNS.

Idiopathic distal sensory polyneuropathy

R. Freeman, R. Dworkin, R. Treister, 2020, Neurology.

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

S. Dib-Hajj, S. Waxman, G. Lauria, 2014, Brain : a journal of neurology.

Hereditary muscular dystrophies and the heart

Y. Pinto, H. Crijns, C. Faber, 2010, Neuromuscular Disorders.

230th ENMC International Workshop: Improving future assessment and research in IgM anti-MAG peripheral neuropathy: A consensus collaborative effort, Naarden, The Netherlands, 24–26 February 2017

P. Bergh, A. Steck, H. Willison, 2017, Neuromuscular Disorders.

Modifying the Medical Research Council grading system through Rasch analyses

Alan Tennant, Giuseppe Lauria, L. H. van den Berg, 2011, Brain : a journal of neurology.

Outcome measures in peripheral neuropathies: requirements through statements.

G. Lauria, I. Merkies, C. Faber, 2012, Current opinion in neurology.

Fatigue and daytime sleepiness scale in myotonic dystrophy type 1

Alan Tennant, A. Tennant, E. Blom, 2013, Muscle & nerve.

Thrombin Generation in Platelet-Rich Plasma as a Tool for the Detection of Hypercoagulability in Young Stroke Patients

J. Lodder, J. Troost, C. Faber, 2003, Pathophysiology of Haemostasis and Thrombosis.

Peripheral neuropathy in colorectal cancer survivors: The influence of oxaliplatin administration. Results from the population-based PROFILES registry

V. Tjan-Heijnen, L. V. van de Poll-Franse, F. Mols, 2015, Acta oncologica.

Intraepidermal nerve fiber density and its application in sarcoidosis

G. Lauria, M. D. de Baets, R. Lombardi, 2009, Neurology.

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

W. Hop, B. V. van Engelen, J. Verschuuren, 2012, Orphanet Journal of Rare Diseases.

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

Y. Pinto, S. Schalla, G. Snoep, 2012, Journal of Cardiovascular Magnetic Resonance.

Electrical spinal cord stimulation in painful diabetic polyneuropathy, a systematic review on treatment efficacy and safety.

M. van Kleef, A. Kessels, N. Schaper, 2011, European journal of pain.

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

S. Dib-Hajj, S. Waxman, Chongyang Han, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Physician-assessed and patient-reported outcome measures in chemotherapy-induced sensory peripheral neurotoxicity: two sides of the same coin.

T. Postma, M. Valsecchi, G. Cavaletti, 2014, Annals of oncology : official journal of the European Society for Medical Oncology.

An overview of predictors for persistent neuropathic pain

H. D. de Vet, W. Zuurmond, S. Boogaard, 2013, Expert review of neurotherapeutics.

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

S. Waxman, F. Rice, J. A. Black, 2015, Molecular pain.

Skin biopsy and small fibre neuropathies: facts and thoughts 30 years later

G. Lauria, D. Cornblath, C. Faber, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

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.

S. Dib-Hajj, S. Waxman, G. Lauria, 2012, Brain : a journal of neurology.

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

A. Boulton, C. Abbott, G. Lauria, 2020, Diabetes care.

Associated conditions in small fiber neuropathy – a large cohort study and review of the literature

I. S. J. Merkies, J. Hoeijmakers, I. Merkies, 2017, European journal of neurology.

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

G. V. van Koeveringe, G. Hoogland, C. Faber, 2019, Muscle & nerve.

Does ability to walk reflect general functionality in inflammatory neuropathies?

D. Cornblath, P. Doorn, I. Merkies, 2016, Journal of the peripheral nervous system : JPNS.

An evaluation of 24 h Holter monitoring in patients with myotonic dystrophy type 1

K. Vernooy, C. Horlings, B. V. van Engelen, 2022, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

T. Heskes, P. Donnan, J. Deux, 2018, The Lancet Neurology.

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

S. Dib-Hajj, S. Waxman, G. Lauria, 2011, Molecular pain.

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy

H. Smeets, S. Waxman, E. Salvi, 2022, International journal of molecular sciences.

Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre‐randomization phase of the Polyneuropathy And Treatment with Hizentra study

D. Yarnitsky, M. Valis, H. Hartung, 2019, Journal of the peripheral nervous system : JPNS.

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

S. Dib-Hajj, S. Waxman, G. Lauria, 2012, Proceedings of the National Academy of Sciences.

Patients' and physicians' interpretation of chemotherapy‐induced peripheral neurotoxicity

T. Postma, M. Valsecchi, L. Padua, 2019, Journal of the peripheral nervous system : JPNS.

Incidence and prevalence of small-fiber neuropathy

J. Hoeijmakers, I. Merkies, C. Faber, 2013, Neurology.

Second intravenous immunoglobulin dose in patients with Guillain-Barré syndrome with poor prognosis (SID-GBS): a double-blind, randomised, placebo-controlled trial

Hester F. Lingsma, E. Steyerberg, R. Hughes, 2021, The Lancet Neurology.

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial

G. L. Masson, D. Yarnitsky, S. Muley, 2018, The Lancet Neurology.

Entrapment in anti myelin-associated glycoprotein neuropathy

H. Franssen, J. Wokke, C. Faber, 2009, Journal of neurology.

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

S. Dib-Hajj, S. Waxman, G. Lauria, 2012, Brain : a journal of neurology.

Withdrawal of intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy

R. D. de Haan, M. Dijkgraaf, L. Visser, 2022, Brain : a journal of neurology.

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

B. Kremer, W. Pilz, L. Baijens, 2014, Neuromuscular Disorders.

Sustained effect of spinal cord stimulation on pain and quality of life in painful diabetic peripheral neuropathy.

C. Dirksen, M. van Kleef, A. Kessels, 2013, British journal of anaesthesia.

Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ)

Catharina G. Faber, C. Faber, C. Die-Smulders, 2010, Neuromuscular Disorders.

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

C. Dirksen, M. van Kleef, A. Kessels, 2015, Diabetes Care.

Myotonic discharges discriminate chloride from sodium muscle channelopathies

D. Stegeman, M. Zwarts, B. Engelen, 2015, Neuromuscular Disorders.

Lacosamide Inhibition of NaV1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore

H. Smeets, S. Dib-Hajj, S. Waxman, 2021, Frontiers in Pharmacology.

Quality-of-life outcomes from a randomized phase III trial of dose-dense weekly paclitaxel and carboplatin compared with conventional paclitaxel and carboplatin as a first-line treatment for stage II–IV ovarian cancer: Japanese Gynecologic Oncology Group Trial (JGOG3016)

T. Postma, A. Schenone, C. Briani, 2013 .

Corneal confocal microscopy compared with quantitative sensory testing and nerve conduction for diagnosing and stratifying the severity of diabetic peripheral neuropathy

G. Lauria, R. Malik, H. Soran, 2020, BMJ Open Diabetes Research & Care.

Diabetic Neuropathy Is Characterized by Progressive Corneal Nerve Fiber Loss in the Central and Inferior Whorl Regions

A. Boulton, G. Lauria, R. Malik, 2020, Investigative ophthalmology & visual science.

Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial

G. L. Masson, C. Ervin, H. Hartung, 2018, The Lancet Neurology.

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

B. V. van Engelen, N. Voermans, E. Kamsteeg, 2021, Clinical genetics.

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

S. Dib-Hajj, S. Waxman, G. Lauria, 2012, Annals of neurology.

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

J. Hoeijmakers, I. Merkies, C. Faber, 2016, Trials.

Living with small fiber neuropathy: insights from qualitative focus group interviews

M. Goossens, J. Verbunt, Marieke de Mooij, 2022, The Journal of international medical research.

Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial

A. V. van Norden, M. Dijkgraaf, B. Kleine, 2010, The Lancet Neurology.

Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation.

S. Waxman, J. A. Black, G. Lauria, 2015, Journal of neurophysiology.

Ca 2 toxicity due to reverse Na / Ca 2 exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav 1 . 7 mutation

S. Waxman, J. A. Black, G. Lauria, 2015 .

Recent advances for using human induced-pluripotent stem cells as pain-in-a-dish models of neuropathic pain

S. Waxman, G. Lauria, C. Faber, 2022, Experimental Neurology.

Anxiety and depression in small fiber neuropathy

K. Schruers, C. Leue, J. Hoeijmakers, 2022, Journal of the peripheral nervous system : JPNS.

578PADJUVANT OXALIPLATIN DOSE AND DOSE REDUCTIONS ARE ASSOCIATED WITH SEVERITY OF PERIPHERAL NEUROPATHY AMONG COLORECTAL CANCER SURVIVORS: RESULTS FROM THE POPULATION-BASED PROFILES REGISTRY.

V. Tjan-Heijnen, L. V. van de Poll-Franse, F. Mols, 2014, Annals of oncology : official journal of the European Society for Medical Oncology.

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss

H. Smeets, P. Hofman, F. Spaans, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

16. Complex Regional Pain Syndrome

M. van Kleef, N. Mekhail, F. Huygen, 2011, Pain practice : the official journal of World Institute of Pain.

EVIDENCE-BASED MEDICINE Evidence-based Interventional Pain Medicine according to Clinical Diagnoses 16. Complex Regional Pain Syndrome

N. Mekhail, F. Huygen, T. Lubenow, 2010 .

Advances in diagnostics and outcome measures in peripheral neuropathies

G. Lauria, I. Merkies, C. Faber, 2015, Neuroscience Letters.

Portal Predictors for persistent neuropathic pain

H. Vet, M. Heymans, W. Zuurmond, 2011 .

Predictors for Persistent Neuropathic Pain

H. Vet, M. Heymans, W. Zuurmond, 2011 .

Predictors for persistent neuropathic pain--a Delphi survey.

H. D. de Vet, M. Heymans, W. Zuurmond, 2011, Pain physician.

Small fibre neuropathy.

G. Lauria, I. Merkies, C. Faber, 2012, Current opinion in neurology.

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

S. Waxman, J. A. Black, J. Hoeijmakers, 2013, Molecular pain.

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

S. Waxman, G. Lauria, J. Hoeijmakers, 2016, Molecular pain.

Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature.

J. Vles, J. Hendriksen, S. Klinkenberg, 2019, Journal of pediatric psychology.

Hydropathicity-based prediction of pain-causing NaV1.7 variants

Yang Yang, Ronald L. Westra, Dimos Kapetis, 2021, BMC Bioinformatics.

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

Marta Simeoni, Erika Salvi, Stefano Zamuner, 2020, Scientific Reports.

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

Filippo Martinelli-Boneschi, Andrea Zauli, Ronald L. Westra, 2017, BMC Systems Biology.

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

H. Smeets, S. Dib-Hajj, S. Waxman, 2020, PloS one.

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

H. Smeets, J. Hoeijmakers, C. Faber, 2019, Mitochondrion.

The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings.

J. Heimans, G. Altavilla, T. Postma, 2013 .

The chemotherapy-induced peripheral neuropathy outcome measures standardization study: from consensus to the first validity and reliability findings.

G. Altavilla, T. Postma, S. Galimberti, 2013, Annals of oncology : official journal of the European Society for Medical Oncology.

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

J. Hoeijmakers, I. Merkies, C. Faber, 2015, PloS one.

Spinal Cord Stimulation and Pain Relief in Painful Diabetic Peripheral Neuropathy: A Prospective Two-Center Randomized Controlled Trial

C. Dirksen, M. van Kleef, A. Kessels, 2014, Diabetes Care.

Predictors of Pain Relieving Response to Sympathetic Blockade in Complex Regional Pain Syndrome Type 1

Catharina G. Faber, José Geurts, M. van Kleef, 2012, Anesthesiology.

Regional variation of Guillain-Barré syndrome

G. Marfia, H. Hartung, S. Ajroud‐Driss, 2018, Brain : a journal of neurology.

Outcome measures in immune‐mediated neuropathies: the need to standardize their use and to understand the clinimetric essentials

I. Merkies, C. Faber, S. I. van Nes, 2008, Journal of the peripheral nervous system : JPNS.

Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study

C. Schmitz, S. Mellgren, G. Lauria, 2010, Journal of the peripheral nervous system : JPNS.

Activities of daily living in myotonic dystrophy type 1

H. Lochmüller, C. Jimenez-Moreno, S. Cumming, 2019, Acta neurologica Scandinavica.

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

A. J. van der Kooi, J. Hoeijmakers, I. Merkies, 2022, Molecular genetics & genomic medicine.

A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy

S. Dib-Hajj, S. Waxman, G. Lauria, 2019, Molecular pain.

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

C. Woods, S. Dib-Hajj, S. Waxman, 2014, The Lancet Neurology.

The Role of Sodium Channels in Painful Diabetic and Idiopathic Neuropathy

S. Waxman, G. Lauria, R. Malik, 2014, Current Diabetes Reports.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

H. Smeets, M. Koenig, J. Mandel, 2010, Human molecular genetics.

Painful peripheral neuropathy and sodium channel mutations

S. Waxman, J. Hoeijmakers, I. Merkies, 2015, Neuroscience Letters.

Revised normative values for grip strength with the Jamar dynamometer

P. V. van Doorn, I. Merkies, C. Faber, 2011, Journal of the peripheral nervous system : JPNS.

Intravenous Immunoglobulin Therapy in Patients With Painful Idiopathic Small Fiber Neuropathy

S. V. van Kuijk, J. Hoeijmakers, I. Merkies, 2021, Neurology.

Severity of Neuropathy Is Associated With Long-term Spinal Cord Stimulation Outcome in Painful Diabetic Peripheral Neuropathy: Five-Year Follow-up of a Prospective Two-Center Clinical Trial

C. Dirksen, M. van Kleef, J. Geurts, 2017, Diabetes Care.

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

C. Dirksen, M. van Kleef, A. Kessels, 2017, The journal of pain : official journal of the American Pain Society.

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

J. Hoeijmakers, I. Merkies, C. Faber, 2016, Trials.

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

M. van Kleef, J. Hoeijmakers, I. Merkies, 2015, Drugs & Aging.

Pain relief and quality-of-life improvement after spinal cord stimulation in painful diabetic polyneuropathy: a pilot study.

C. Dirksen, M. van Kleef, J. Reulen, 2012, British journal of anaesthesia.

Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses

L. H. van den Berg, G. Lauria, J. Pouget, 2015, Journal of the peripheral nervous system : JPNS.

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

C. Faber, E. Vanhoutte, I. Merkies, 2013, Neuromuscular Disorders.

Revising two-point discrimination assessment in normal aging and in patients with polyneuropathies

O. Harschnitz, P. V. van Doorn, P A van Doorn, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Nick C Fox, T. Heskes, C. Kennard, 2019, Brain : a journal of neurology.

Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies

M. Bakkers, P. V. van Doorn, I. Merkies, 2011, Neurology.

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

J. Fock, D. Vrijens, J. Vles, 2021, Life.

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

Catharina G. Faber, Stephen G. Waxman, Giuseppe Lauria, 2012, Nature Reviews Neurology.

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

C. Horlings, J. Statland, B. V. van Engelen, 2021, European journal of neurology.

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

C. Horlings, B. V. van Engelen, I. Merkies, 2020, International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation.

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

H. Lochmüller, C. Jimenez-Moreno, S. Cumming, 2020, Journal of Neurology.

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

L. H. van den Berg, G. Lauria, J. Pouget, 2015, Journal of the peripheral nervous system : JPNS.

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

T. Coelho, A. M. da Silva, I. Merkies, 2015, Journal of the peripheral nervous system : JPNS.

Rasch-built Overall Disability Scale for patients with chemotherapy-induced peripheral neuropathy (CIPN-R-ODS).

J. Heimans, G. Altavilla, T. Postma, 2013, European journal of cancer.

Fatigue in immune-mediated neuropathies

C. Faber, I. Merkies, 2012, Neuromuscular Disorders.

Corneal nerve loss is related to the severity of painful diabetic neuropathy

A. Boulton, G. Lauria, R. Malik, 2021, European journal of neurology.

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

G. Lauria, R. Malik, H. Soran, 2020, Scientific Reports.

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

A. Boulton, G. Lauria, R. Malik, 2018, Scientific Reports.

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

S. Waxman, J. Hoeijmakers, I. Merkies, 2014, Trends in molecular medicine.

Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons

Yang Yang, Stephen G Waxman, S. Dib-Hajj, 2013, The Journal of Neuroscience.

The minimum clinically important difference: which direction to take

I. Merkies, C. Faber, B. D. de Greef, 2019, European journal of neurology.

Spinal Cord Stimulation in Complex Regional Pain Syndrome Type I of Less Than 12‐Month Duration

M. van Kleef, J. Geurts, J. van Zundert, 2012, Neuromodulation : journal of the International Neuromodulation Society.

Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study

H. Smeets, S. Waxman, R. Westra, 2021, Journal of Biological Physics.

Noninvasive Home Mechanical Ventilation in Adult Myotonic Dystrophy Type 1: A Systematic Review

N. Cobben, B. V. van Engelen, P. Wijkstra, 2021, Respiration.

Small fiber neuropathies: expanding their etiologies

J. Hoeijmakers, I. Merkies, C. Faber, 2022, Current opinion in neurology.

COL6A5 variants in familial neuropathic chronic itch

S. Dib-Hajj, S. Waxman, M. Cocca, 2017, Brain : a journal of neurology.

Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies

G. L. Masson, D. Yarnitsky, M. Valis, 2019, Journal of the peripheral nervous system : JPNS.

Grip strength comparison in immune‐mediated neuropathies: Vigorimeter vs. Jamar

L. H. van den Berg, R. Lewis, G. Lauria, 2015, Journal of the peripheral nervous system : JPNS.

Rasch‐built Overall Disability Scale for Multifocal motor neuropathy (MMN‐RODS©)

L. H. van den Berg, D. Cornblath, W. L. van der Pol, 2015, Journal of the peripheral nervous system : JPNS.

Differential effect of D623N variant and wild-type Nav1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons

S. Dib-Hajj, S. Waxman, M. Estacion, 2013, Brain Research.

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

G. Lauria, R. Malik, H. Soran, 2020, Scientific Reports.

Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype

K. Vernooy, C. Horlings, B. V. van Engelen, 2022, Muscle & nerve.

Small fibers, large impact: Quality of life in small‐fiber neuropathy

G. Lauria, J. Hoeijmakers, I. Merkies, 2014, Muscle & nerve.

Sudden death in myotonic dystrophy.

Y. Pinto, C. Faber, Mieke C. E. Hermans, 2008, The New England journal of medicine.

Small fiber neuropathy in Fabry disease.

C. Hollak, J. Aerts, C. Faber, 2012, Molecular genetics and metabolism.

Changing outcome in inflammatory neuropathies

L. H. van den Berg, J. Pouget, G. Lauria, 2014, Neurology.

Rasch‐ionale for neurologists

J. Thonnard, I. Merkies, C. Faber, 2015, Journal of the peripheral nervous system : JPNS.

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

H. Smeets, S. Waxman, G. Lauria, 2019, Experimental Neurology.

Questionnaires and scales SFN Symptom Inventory

G. Lauria, I. Merkies, C. Faber, 2012 .

Contact heat evoked potentials: Normal values and use in small‐fiber neuropathy

V. Lagerburg, J. Reulen, A. Smit, 2015, Muscle & nerve.

Morphometry of dermal nerve fibers in human skin

G. Lauria, J. Casanova-Mollá, G. Lauria, 2011, Neurology.

The applicability of the digit wrinkle scan to quantify sympathetic nerve function

J. Hoeijmakers, I. Merkies, C. Faber, 2022, Clinical neurophysiology practice.

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

J. Vles, J. Hendriksen, S. Klinkenberg, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Approach to small fiber neuropathy

S. Waxman, G. Lauria, I. Merkies, 2014 .

CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

H. Kramers, G. Marfia, T. Feasby, 2023, Neurology.

Brush‐evoked allodynia predicts outcome of spinal cord stimulation in Complex Regional Pain Syndrome type 1

A. Kessels, J. Geurts, E. Joosten, 2010, European journal of pain.

Temperature threshold testing: a systematic review

H. Franssen, J. Reulen, I. Merkies, 2013, Journal of the peripheral nervous system : JPNS.

Efficacy and safety of vixotrigine in idiopathic or diabetes-associated painful small fibre neuropathy (CONVEY): a phase 2 placebo-controlled enriched-enrolment randomised withdrawal study

R. Freeman, R. Dworkin, K. Dawson, 2023, EClinicalMedicine.

IgM anti‐MAG± peripheral neuropathy (IMAGiNe) study protocol: An international, observational, prospective registry of patients with IgM M‐protein peripheral neuropathies

D. Cornblath, Perry T C van Doormaal, A. Vrancken, 2023, Journal of the peripheral nervous system : JPNS.

Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1

G. Plasqui, L. V. van Loon, C. Faber, 2023, Journal of neuromuscular diseases.

The small fiber neuropathy NaV1.7 I228M mutation: impaired neurite integrity via bioenergetic and mitotoxic mechanisms, and protection by dexpramipexole.

S. Waxman, G. Lauria, J. Hoeijmakers, 2019, Journal of neurophysiology.

Neuropathy‐associated NaV1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons

S. Waxman, I. Merkies, C. Faber, 2013, Annals of neurology.

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

S. Dib-Hajj, S. Waxman, G. Lauria, 2015, NeuroMolecular Medicine.

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

S. Waxman, G. Lauria, R. Eleopra, 2014, PAIN®.

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

S. Dib-Hajj, S. Waxman, E. Salvi, 2023, International journal of molecular sciences.

Diagnosis of neuropathic pain: challenges and possibilities.

S. Waxman, G. Lauria, I. Merkies, 2012, Expert opinion on medical diagnostics.

Vibration threshold in non-diabetic subjects

I. Nolte, G. Drost, S. Bakker, 2020, PloS one.

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

H. Smeets, S. Waxman, E. Salvi, 2022, International journal of molecular sciences.

TRPA1 rare variants in chronic neuropathic and nociplastic pain patients

M. de Tommaso, S. Dib-Hajj, S. Waxman, 2023, Pain.

J. Verbunt, J. Hoeijmakers, I. Merkies, 2016, Journal of the peripheral nervous system : JPNS.

AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands

D. Bonifati, J. Verschuuren, J. Wokke, 2009, Journal of Neurology.

Prospective Evaluation of Health Care Provider and Patient Assessments in Chemotherapy-Induced Peripheral Neurotoxicity

G. Cavaletti, A. Schenone, C. Briani, 2021, Neurology.

Validation of the Serbian version of inflammatory Rasch‐built overall disability scale in patients with chronic inflammatory demyelinating polyradiculoneuropathy

I. Bozovic, I. Merkies, C. Faber, 2019, Journal of the peripheral nervous system : JPNS.

Quality of life in inflammatory neuropathies: the IN-QoL

I. Merkies, C. Faber, T. H. Draak, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

Improving fatigue assessment in immune‐mediated neuropathies: the modified Rasch‐built fatigue severity scale

P. V. van Doorn, I. Merkies, C. Faber, 2009, Journal of the peripheral nervous system : JPNS.

Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy

S. Waxman, E. Salvi, G. Lauria, 2023, Brain : a journal of neurology.

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

H. Smeets, S. Waxman, R. Westra, 2020, Proteins.

Outcome measures in MMN revisited: further improvement needed

L. H. van den Berg, W. L. van der Pol, I. Merkies, 2015, Journal of the peripheral nervous system : JPNS.

Small Fiber Neuropathy: A Clinical and Practical Approach

J. Hoeijmakers, I. Merkies, C. Faber, 2023, The Journal for Nurse Practitioners.

Correspondence between neurophysiological and clinical measurements of chemotherapy‐induced peripheral neuropathy: secondary analysis of data from the CI‐PeriNomS study

M. Johantgen, T. Postma, M. Valsecchi, 2014, Journal of the peripheral nervous system : JPNS.

IGM ANTI-MAG PERIPHERAL NEUROPATHY: FROM PROPER ASSESSMENT TO TRIAL NEEDS (IMAGINE STUDY)

I. Merkies, C. Faber, M. Lunn, 2016 .

Improving assessment in small fiber neuropathy

J. Hoeijmakers, I. Merkies, C. Faber, 2015, Journal of the peripheral nervous system : JPNS.

Evidence-based interventional pain medicine according to clinical diagnoses. 16. Complex regional pain syndrome.

M. van Kleef, N. Mekhail, F. Huygen, 2011, Pain practice : the official journal of World Institute of Pain.

Acceptability, usability and feasibility of experienced sampling method in chronic secondary pain syndromes

J. Verbunt, A. Köke, M. den Hollander, 2023, Frontiers in neurology.

Role of respiratory characteristics in treatment adherence with noninvasive home mechanical ventilation in myotonic dystrophy type 1, a retrospective study

N. Cobben, P. Wijkstra, C. Faber, 2023, Neuromuscular Disorders.

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

A. Boulton, G. Lauria, R. Malik, 2018, Scientific Reports.

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

H. Smeets, C. D. de Die-Smulders, D. Hellebrekers, 2020, European Journal of Human Genetics.

Peripheral neuropathy in myotonic dystrophy type 1

C. D. de Die-Smulders, M. D. de Baets, I. Merkies, 2011, Journal of the peripheral nervous system : JPNS.

16. Complex Regional Pain Syndrome

M. van Kleef, N. Mekhail, F. Huygen, 2011, Pain practice : the official journal of World Institute of Pain.

Spastic paraparesis without optic atrophy after occupational methanol exposure

G. Hageman, C. Faber, J. Hoek, 2003, Journal of Neurology.

The risks of using non-specific outcome measures to capture activities of daily living in myotonic dystrophy type 2

C. Faber, I. Merkies, Tatiana Hamadeh, 2021, Neuromuscular Disorders.

Nav1.7-related small fiber neuropathy

S. Dib-Hajj, S. Waxman, G. Lauria, 2012, Neurology.

Small fibre neuropathy.

G. Lauria, I. Merkies, C. Faber, 2012, Current opinion in neurology.

The Pain Dynamics of Small Fiber Neuropathy.

M. van Kleef, S. V. van Kuijk, J. Hoeijmakers, 2018, The journal of pain : official journal of the American Pain Society.

Small fibre neuropathy in sarcoidosis

C. Sommer, E. Hoitsma, M. Drent, 2002, The Lancet.

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

S. Waxman, G. Lauria, R. Eleopra, 2014, PAIN®.

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

S. Dib-Hajj, G. Lauria, M. Gerrits, 2014, The Lancet Neurology.

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.

S. Dib-Hajj, S. Waxman, G. Lauria, 2012, Brain : a journal of neurology.

Abnormal warm and cold sensation thresholds suggestive of small-fibre neuropathy in sarcoidosis

F. Spaans, E. Hoitsma, J. Troost, 2003, Clinical Neurophysiology.

Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes

S. Pillen, M. Zwarts, B. Engelen, 2009, Neuromuscular Disorders.

The minimum clinically important difference: which direction to take

I. S. J. Merkies, C. Faber, B. D. de Greef, 2019, European journal of neurology.

Outcome measures in MMN revisited: further improvement needed

L. H. van den Berg, W. L. van der Pol, I. Merkies, 2015, Journal of the peripheral nervous system : JPNS.

T. Coelho, I. Merkies, C. Faber, 2015, Journal of the peripheral nervous system.

Sustained effect of spinal cord stimulation on pain and quality of life in painful diabetic peripheral neuropathy.

C. Dirksen, M. Kleef, C. Faber, 2013, British journal of anaesthesia.

Pain and autonomic dysfunction in patients with sarcoidosis and small fibre neuropathy

G. Lauria, M. D. de Baets, M. Drent, 2010, Journal of Neurology.

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

S. Waxman, J. Hoeijmakers, I. Merkies, 2014, Trends in molecular medicine.

CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

H. Kramers, G. Marfia, T. Feasby, 2023, Neurology.

Grip strength comparison in immune‐mediated neuropathies: Vigorimeter vs. Jamar

L. H. van den Berg, R. Lewis, G. Lauria, 2015, Journal of the peripheral nervous system : JPNS.

Archival skin biopsy specimens as a tool for miRNA-based diagnosis: Technical and post-analytical considerations

E. Salvi, C. Faber, M. Marchi, 2023, Molecular therapy. Methods & clinical development.

Statistische significantie of klinische relevantie

I. Merkies, C. Faber, E. Vanhoutte, 2010 .

Cost of illness of patients with small fiber neuropathy in the Netherlands

Y. van Eijk-Hustings, M. Joore, L. Brandts, 2023, Pain.

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

F. Mols, G. Vreugdenhil, C. Faber, 2014, Nederlands tijdschrift voor geneeskunde.

Optimizing temperature threshold testing in small‐fiber neuropathy

J. Reulen, J. Hoeijmakers, I. Merkies, 2015, Muscle & nerve.

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

J. Vles, J. Hendriksen, S. Klinkenberg, 2019, European journal of paediatric neurology.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

T. Heskes, P. Donnan, J. Deux, 2018, The Lancet Neurology.

The small fiber neuropathy—symptom inventory questionnaire (SFN‐SIQ) does not discriminate between patients with or without small fiber neuropathy

J. Hoeijmakers, I. Merkies, C. Faber, 2023, Journal of the peripheral nervous system : JPNS.

Two independent mouse lines carrying the Nav1.7-I228M gain-of-function variant display DRG neuron hyperexcitability but a minimal pain phenotype.

Nivanthika K. Wimalasena, S. Waxman, C. Woolf, 2020, Pain.

Epidermal Nerve Fibers

S. Waxman, G. Lauria, I. Merkies, 2014 .

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

J. Hoeijmakers, I. Merkies, C. Faber, 2024, Health expectations : an international journal of public participation in health care and health policy.