المؤلفون: Vanhoutte, EK, Draak, THP, Gorson, KC, van Nes, SI, Hoeijmakers, JGJ, Van der Pol, WL, Notermans, NC, Lewis, RA, Nobile-Orazio, E, Leger, JM, Van den Bergh, PYK, Lauria, G, Bril, V, Katzberg, H, Lunn, MPT, Pouget, J, van der Kooi, AJ, Hahn, AF, van Doorn, PA, Cornblath, DR, van den Berg, LH, Faber, CG, Merkies, ISJ, Illa I., Querol, L., PeriNomS Study Grp

المصدر: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: outcome measure, immune-mediated neuropathies, minimum clinically important difference, Rasch

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::c4ee116b6d4f0b4d5b298af4d4186684
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8387

المؤلفون: Hoeijmakers, JGJ, Merkies, ISJ, Gerrits, MM, Waxman, SG, Faber, CG

المصدر: Clinical Genetics; Oct2012, Vol. 82 Issue 4, p351-358, 8p

مصطلحات موضوعية: SODIUM channels, NEUROPATHY, MOLECULAR genetics, PATHOLOGICAL physiology, GENES, NEURONS

المؤلفون: Santoro, S., Lopez, I. D., Daniele Cazzato, Sorosina, M., Zauli, A., Grevendonk, L., Lombardi, R., Marchi, M., Faber, C. G., Gerrits, M. M., Almomani, R., Hoeijmakers, J. G. J., Merkies, I. S. J., Fadavi, H., Malik, R., Ziegler, D., Boenhof, G., Comi, G., Dib-Hajj, S. D., Waxman, S. G., Quattrini, A., Lauria, G., Boneschi, Martinelli F.

المساهمون: Santoro, S, Lopez, Id, Cazzato, D, Sorosina, M, Zauli, A, Grevendonk, L, Lombardi, R, Marchi, M, Faber, Cg, Gerrits, Mm, Almomani, R, Hoeijmakers, Jgj, Merkies, Isj, Fadavi, H, Malik, R, Ziegler, D, Boenhof, G, Comi, Giancarlo, Dib Hajj, Sd, Waxman, Sg, Quattrini, A, Lauria, G, Boneschi, Fm

المصدر: Publons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e26845aa6fcafae259a74764cfb919cf
https://publons.com/publon/26088134/

المؤلفون: Misra K; Laboratory of Human Genetics of Neurological Disorders, IRCCS San Raffaele Scientific Institute, Institute of Experimental Neurology, 20132 Milan, Italy., Ślęczkowska M; Department of Toxicogenomics, Maastricht University, 6229 ER Maastricht, The Netherlands.; Department of Neurology, Mental Health and Neuroscience Research Intsitute, Maastricht University Medical Centre+, 6229 ER Maastricht, The Netherlands., Santoro S; Laboratory of Human Genetics of Neurological Disorders, IRCCS San Raffaele Scientific Institute, Institute of Experimental Neurology, 20132 Milan, Italy., Gerrits MM; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 HX Maastricht, The Netherlands., Mascia E; Laboratory of Human Genetics of Neurological Disorders, IRCCS San Raffaele Scientific Institute, Institute of Experimental Neurology, 20132 Milan, Italy., Marchi M; Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Salvi E; Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Smeets HJM; Department of Toxicogenomics, Maastricht University, 6229 ER Maastricht, The Netherlands., Hoeijmakers JGJ; Department of Neurology, Mental Health and Neuroscience Research Intsitute, Maastricht University Medical Centre+, 6229 ER Maastricht, The Netherlands., Martinelli Boneschi FG; Aldo Ravelli Center for Neurotechnology and Experimental Brain Therapeutics, Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Clinical Neurology Unit, Azienda Socio-Sanitaria Territoriale Santi Paolo e Carlo and Department of Health Sciences, University of Milan, 20142 Milan, Italy., Filippi M; Neurology and Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.; Vita-Salute San Raffaele University, 20132 Milan, Italy.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Lauria Pinter G; Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Biomedical and Clinical Sciences 'Luigi Sacco', University of Milan, 20157 Milan, Italy., Faber CG; Department of Neurology, Mental Health and Neuroscience Research Intsitute, Maastricht University Medical Centre+, 6229 ER Maastricht, The Netherlands., Esposito F; Laboratory of Human Genetics of Neurological Disorders, IRCCS San Raffaele Scientific Institute, Institute of Experimental Neurology, 20132 Milan, Italy.; Neurology and Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 30; Vol. 25 (13). Date of Electronic Publication: 2024 Jun 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing* , Small Fiber Neuropathy*/genetics , Age of Onset*, Humans ; Female ; Male ; Adult ; Middle Aged ; Neuralgia/genetics ; Mutation ; Genetic Predisposition to Disease ; Italy ; Young Adult ; Adolescent ; Netherlands

المؤلفون: Hodzelmans JJA; (Maastricht, the Netherlands)., Janssen MLF; (Maastricht, the Netherlands)., Hoeijmakers JGJ; (Maastricht, the Netherlands)., Sutedja NA; (Maastricht, the Netherlands).

المصدر: Neurology [Neurology] 2024 May; Vol. 102 (10), pp. e209409. Date of Electronic Publication: 2024 Apr 24.

نوع المنشور: Letter; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

مواضيع طبية MeSH: Aging*/physiology , Neurologic Examination*/methods, Humans ; Neural Conduction/physiology ; Aged ; Middle Aged ; Adult

المؤلفون: Geerts M; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands., Hoeijmakers JGJ; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands., Essers BAB; Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center+, Maastricht, The Netherlands., Merkies ISJ; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Neurology, Curacao Medical Center, Willemstad, Curacao., Faber CG; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands., Goossens MEJB; Department of Rehabilitation Research & Department of Clinical Psychological Sciences, Maastricht University, Maastricht, The Netherlands.

المصدر: PloS one [PLoS One] 2024 Apr 16; Vol. 19 (4), pp. e0298881. Date of Electronic Publication: 2024 Apr 16 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Small Fiber Neuropathy* , Neuralgia*/etiology, Humans ; Female ; Middle Aged ; Cohort Studies ; Patient Satisfaction ; Prospective Studies ; Netherlands ; Surveys and Questionnaires

المؤلفون: Geerts M; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands., Hoeijmakers JGJ; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands., Essers BAB; Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center+, Maastricht, The Netherlands., Merkies ISJ; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Neurology, Curacao Medical Center, J. H. J. Hamelbergweg, Willemstad, Curaçao., Faber CG; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands., Goossens MEJB; Department of Rehabilitation Research, Department of Rehabilitation Medicine, Research School CAPHRI, Maastricht University, Maastricht, The Netherlands.; Department of Clinical Psychological Sciences, Department of Clinical Psychological Sciences, Experimental Psychology, Maastricht University, Maastricht, The Netherlands.

المصدر: Health expectations : an international journal of public participation in health care and health policy [Health Expect] 2024 Apr; Vol. 27 (2), pp. e14011.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9815926 Publication Model: Print Cited Medium: Internet ISSN: 1369-7625 (Electronic) Linking ISSN: 13696513 NLM ISO Abbreviation: Health Expect Subsets: MEDLINE

مواضيع طبية MeSH: Patient Satisfaction* , Small Fiber Neuropathy*, Humans ; Feasibility Studies ; Surveys and Questionnaires ; Qualitative Research ; Reproducibility of Results

المؤلفون: van Gool R; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands., Far A; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Neurology, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands., Drenthen GS; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Radiology and Nuclear Medicine, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands., Jansen JFA; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Radiology and Nuclear Medicine, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands; Department of Electrical Engineering, Eindhoven University of Technology, Eindhoven, North Brabant, The Netherlands., Goijen CP; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Neurology, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands., Backes WH; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Radiology and Nuclear Medicine, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands., Linden DEJ; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Psychiatry and Neuropsychology, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands., Merkies ISJ; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Neurology, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands; Department of Neurology, Curaçao Medical Center, Willemstad, Kingdom of the Netherlands, Curaçao., Faber CG; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Neurology, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands., Upadhyay J; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, Massachusetts., Hoeijmakers JGJ; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Limburg, The Netherlands; Department of Neurology, Maastricht University Medical Center+, Maastricht, Limburg, The Netherlands.

المصدر: The journal of pain [J Pain] 2024 Mar; Vol. 25 (3), pp. 730-741. Date of Electronic Publication: 2023 Nov 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Churchill Livingstone Country of Publication: United States NLM ID: 100898657 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-8447 (Electronic) Linking ISSN: 15265900 NLM ISO Abbreviation: J Pain Subsets: MEDLINE

مواضيع طبية MeSH: Small Fiber Neuropathy*/diagnosis , Neuralgia*/diagnostic imaging , Neuralgia*/genetics , Neuralgia*/complications, Humans ; Magnetic Resonance Imaging ; Gyrus Cinguli ; NAV1.7 Voltage-Gated Sodium Channel/genetics

المؤلفون: Atalaia A; Inserm Center of Research in Myology, Neuro-Myology Service G.H. Pitié-Salpêtrière, Sorbonne Université, Paris, France. antonio.marques-atalaia@inserm.fr., Wandrei D; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Lalout N; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, Netherlands.; Duchenne Parent Project, Veenendaal, The Netherlands., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Tassoni A; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., 't Hoen PAC; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, Netherlands., Athanasiou D; World Duchenne Organisation, Veenendaal, The Netherlands., Baker SA; World Duchenne Organisation, Veenendaal, The Netherlands., Sakellariou P; Duchenne Data Foundation, Bergen Op Zoom, The Netherlands., Paliouras G; Duchenne Data Foundation, Bergen Op Zoom, The Netherlands., D'Angelo C; European Reference Network for Rare Neuromuscular Diseases EURO-NMD, Institute of Myology, University Hospital Pitie-Salpetriere-APHP, Paris, France., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy., van der Beek N; Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kornblum C; Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn, Bonn, Germany., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany., Pareyson D; Unit of Rare Neurological Diseases. Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bassez G; Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris, Paris, France., Blacas L; Association Institute of Myology, Hôpital Pitié-Salpêtrière, Paris, France., Jacoupy M; Association Institute of Myology, Hôpital Pitié-Salpêtrière, Paris, France., Eng C; Association Française Contre Les Myopathies, AFM-Téléthon, Evry, France., Lamy F; Association Française Contre Les Myopathies, AFM-Téléthon, Evry, France., Plançon JP; European Patient Organisation for Dysimmune and Inflammatory Neuropathies, Paris, France., Haberlova J; Neuromuscular Center, University Hospital Motol, Prague, Czech Republic., Brusse E; Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Center+, and MHeNS, School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands., de Visser M; Department of Neurology, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, The Netherlands., Claeys KG; Department of Neurology, University Hospitals Leuven, and Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Louvain, Belgium., Paradas C; Hospital Universitario Virgen del Rocío/IBiS, Avda Manuel Siurot S/N, 41013, Seville, Andalucía, Spain., Toscano A; Department of Clinical and Experimental Medicine, AOU G. Martino Di Messina, University of Messina, Messina, Italy., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Gyenge M; Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris, Paris, France., Reviers E; ALS Liga Belgium, Louvain, Belgium., Hamroun D; CHRU de Montpellier, Direction de la Recherche et de L'Innovation, Hôpital La Colombière, Montpellier, France., Vroom E; World Duchenne Organisation, Veenendaal, The Netherlands., Wilkinson MD; Departamento de Biotecnología-Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Centro de Biotecnología y Genómica de Plantas UPM-INIA, Universidad Politécnica de Madrid (UPM), Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA/CSIC), 28223, Madrid, ES, Spain., Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany., Evangelista T; Neuromuscular Pathology Functional Unit; Neuropathology Service, Institute of Myology, University Hospital Pitié-Salpêtrière-APHP, Paris, France.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 14; Vol. 19 (1), pp. 66. Date of Electronic Publication: 2024 Feb 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Neuromuscular Diseases*/genetics, Humans ; Registries ; Rare Diseases

المؤلفون: Geerts M; Department of Neurology, Maastricht University Medical Center+, School of Mental Health and Neuroscience, Maastricht, the Netherlands., Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Center+, School of Mental Health and Neuroscience, Maastricht, the Netherlands., van Eijk-Hustings Y; Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center+, CAPHRI Care and Public Health Research Institute, Maastricht, the Netherlands., Brandts L; Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center+, CAPHRI Care and Public Health Research Institute, Maastricht, the Netherlands., Gorissen-Brouwers CML; Department of Neurology, Maastricht University Medical Center+, School of Mental Health and Neuroscience, Maastricht, the Netherlands., Merkies ISJ; Department of Neurology, Maastricht University Medical Center+, School of Mental Health and Neuroscience, Maastricht, the Netherlands.; Department of Neurology, Curacao Medical Center, J. H. J. Hamelbergweg, Willemstad, Curacao., Joore MA; Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center+, CAPHRI Care and Public Health Research Institute, Maastricht, the Netherlands., Faber CG; Department of Neurology, Maastricht University Medical Center+, School of Mental Health and Neuroscience, Maastricht, the Netherlands.

المصدر: Pain [Pain] 2024 Jan 01; Vol. 165 (1), pp. 153-163. Date of Electronic Publication: 2023 Aug 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 7508686 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6623 (Electronic) Linking ISSN: 03043959 NLM ISO Abbreviation: Pain Subsets: MEDLINE

مواضيع طبية MeSH: Quality of Life* , Small Fiber Neuropathy*, Adult ; Humans ; Netherlands/epidemiology ; Cost of Illness ; Health Care Costs ; Pain