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Tytuł:
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Autorzy:
Atalaia A; Inserm Center of Research in Myology, Neuro-Myology Service G.H. Pitié-Salpêtrière, Sorbonne Université, Paris, France. .
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.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 14; Vol. 19 (1), pp. 66. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Neuromuscular Diseases*/genetics
Humans ; Registries ; Rare Diseases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pathophysiological Mechanisms and Treatment of Dermatomyositis and Immune Mediated Necrotizing Myopathies: A Focused Review.
Autorzy:
Kamperman RG; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, 1100 DD Amsterdam, The Netherlands.
van der Kooi AJ; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, 1100 DD Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, 1100 DD Amsterdam, The Netherlands.
Aronica E; Department of (Neuro)Pathology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Raaphorst J; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, 1100 DD Amsterdam, The Netherlands.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 13; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 13.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Autoimmune Diseases*/pathology
Autoimmune Diseases*/therapy
Dermatomyositis*/pathology
Dermatomyositis*/therapy
Myositis*
Myositis, Inclusion Body*
Humans ; Muscle Weakness/pathology ; Muscle, Skeletal/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
Autorzy:
Attarian S; Reference Center for Neuromuscular Disorders and ALS, CHU La Timone, Marseille, France. .
Young P; Department of Neurology, Medical Park Bad Feilnbach, Bad Feilnbach, Germany.
Brannagan TH; Columbia University Medical Center, The Neurological Institute, New York, USA.
Adams D; French Reference Center for Rare Peripheral Neuropathies, Service de Neurologie Adulte, APHP, CHU Bicêtre, Le Kremlin Bicêtre, France.
Van Damme P; Department of Neurology, University Hospitals Leuven, KU, Leuven, Belgium.; Center for Brain & Disease Research, VIB, Leuven, Belgium.
Thomas FP; Department of Neurology, Hackensack University Medical Center, Hackensack, USA.; Department of Neurology, Saint Louis University School of Medicine, St. Louis, USA.
Casanovas C; Neuromuscular Unit, Neurology Department, Bellvitge University Hospital, Barcelona, Spain.; Neurometabolic Diseases Group, Bellvitge Research Institute (IDIBELL) and CIBERER, Barcelona, Spain.
Kafaie J; Department of Neurology, Saint Louis University School of Medicine, St. Louis, USA.
Tard C; U1171, Centre de référence des maladies neuromusculaires Nord Est Ile de France, Hôpital Salengro CHU de Lille, Lille, France.
Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
Péréon Y; Centre de Référence Maladies Neuromusculaires AOC, Filnemus, Euro-NMD, CHU Nantes, Hôtel-Dieu, Nantes, France.
Walk D; Clinical Neuroscience Research Unit, University of Minnesota, Minneapolis, USA.
Stino A; University of Michigan Health System, Ann Arbor, MI, USA.
de Visser M; Department of Neurology, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
Amato A; Department of Neurology, Brigham and Women's Hospital, Boston, USA.
Carter G; St. Luke's Rehabilitation Institute, Physical Medicine and Rehabilitation, Spokane, USA.
Magy L; CHU Dupuytren, Limoges, France.
Statland JM; University of Kansas Medical Center, Kansas City, USA.
Felice K; Department of Neuromuscular Medicine, Hospital for Special Care, New Britain, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 16; Vol. 16 (1), pp. 433. Date of Electronic Publication: 2021 Oct 16.
Typ publikacji:
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:
Charcot-Marie-Tooth Disease*/drug therapy
Baclofen ; Double-Blind Method ; Humans ; Naltrexone ; Sorbitol
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy).
Autorzy:
Federico A; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy. .
de Visser M; Department of Neurology, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jul; Vol. 42 (7), pp. 2603-2606. Date of Electronic Publication: 2021 Jul 01.
Typ publikacji:
Editorial
MeSH Terms:
Adrenoleukodystrophy*/genetics
Adrenoleukodystrophy*/therapy
Leukodystrophy, Metachromatic*
Child ; Humans
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Advance care planning in progressive neurological diseases: lessons from ALS.
Autorzy:
Seeber AA; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands. .; Section of Medical Ethics, Department of General Practice, Amsterdam University Medical Center, Academic Medical Centre, University of Amsterdam, P.O. Box 22660, Amsterdam, The Netherlands. .
Pols AJ; Section of Medical Ethics, Department of General Practice, Amsterdam University Medical Center, Academic Medical Centre, University of Amsterdam, P.O. Box 22660, Amsterdam, The Netherlands.
Hijdra A; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
Grupstra HF; Department of Rehabilitation, Amsterdam University Medical Center, Academic Medical Center, University of Amsterdam, P.O. Box 22660, Amsterdam, The Netherlands.
Willems DL; Section of Medical Ethics, Department of General Practice, Amsterdam University Medical Center, Academic Medical Centre, University of Amsterdam, P.O. Box 22660, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Amsterdam University Medical Center, Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100 DD, Amsterdam, The Netherlands.
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Źródło:
BMC palliative care [BMC Palliat Care] 2019 Jun 13; Vol. 18 (1), pp. 50. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji:
Journal Article
MeSH Terms:
Advance Care Planning/*trends
Amyotrophic Lateral Sclerosis/*therapy
Muscular Atrophy, Spinal/*therapy
Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/psychology ; Female ; Humans ; Interviews as Topic/methods ; Male ; Middle Aged ; Muscular Atrophy, Spinal/psychology ; Netherlands ; Qualitative Research
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
Autorzy:
van Paassen BW; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Bronk M; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
van Ruissen F; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Spaendonck-Zwarts KY; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Dec; Vol. 22 (4), pp. 464-467. Date of Electronic Publication: 2017 Sep 11.
Typ publikacji:
Case Reports
MeSH Terms:
Inheritance Patterns*
Charcot-Marie-Tooth Disease/*diagnosis
Charcot-Marie-Tooth Disease/*genetics
Nerve Tissue Proteins/*genetics
Adult ; Charcot-Marie-Tooth Disease/pathology ; Charcot-Marie-Tooth Disease/physiopathology ; Genes, Dominant ; Humans ; Middle Aged ; Pedigree
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-Term Air Pollution Exposure and Amyotrophic Lateral Sclerosis in Netherlands: A Population-based Case-control Study.
Autorzy:
Seelen M; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Toro Campos RA; Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands.
Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Visser AE; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Hoek G; Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands.
Brunekreef B; Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands.; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Netherlands
van der Kooi AJ; Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, Netherlands.
de Visser M; Department of Neurology, Amsterdam Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Raaphorst J; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center for Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.
van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Vermeulen RCH; Environmental Epidemiology Division, Institute for Risk Assessment Sciences, Utrecht University, Utrecht, Netherlands.; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Netherlands
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Źródło:
Environmental health perspectives [Environ Health Perspect] 2017 Sep 27; Vol. 125 (9), pp. 097023. Date of Electronic Publication: 2017 Sep 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Air Pollution/*adverse effects
Amyotrophic Lateral Sclerosis/*etiology
Aged ; Case-Control Studies ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Nitrogen Oxides/adverse effects ; Particulate Matter/adverse effects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
Autorzy:
Beeldman E; a Department of Neurology , The Netherlands.
van der Kooi AJ; a Department of Neurology , The Netherlands.
de Visser M; a Department of Neurology , The Netherlands.
van Maarle MC; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
van Ruissen F; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
Baas F; a Department of Neurology , The Netherlands.; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2015; Vol. 16 (5-6), pp. 410-1. Date of Electronic Publication: 2015 Jul 23.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Family Health*
Motor Neuron Disease/*genetics
Mutation/*genetics
Transcription Factor TFIIIA/*genetics
Adult ; Aged ; Cell Cycle Proteins ; Electromyography ; Female ; Humans ; Male ; Membrane Transport Proteins ; Netherlands ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The verbal fluency index: Dutch normative data for cognitive testing in ALS.
Autorzy:
Beeldman E; Department of Neurology, Academic Medical Centre, University of Amsterdam , Amsterdam , the Netherlands.
Jaeger B
Raaphorst J
Seelen M
Veldink J
van den Berg L
de Visser M
Schmand B
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2014 Sep; Vol. 15 (5-6), pp. 388-91. Date of Electronic Publication: 2014 May 27.
Typ publikacji:
Journal Article
MeSH Terms:
Neuropsychological Tests*
Amyotrophic Lateral Sclerosis/*complications
Cognition Disorders/*diagnosis
Cognition Disorders/*etiology
Verbal Behavior/*physiology
Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Netherlands ; Reference Values ; Severity of Illness Index ; Statistics, Nonparametric
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
Autorzy:
van Paassen BW; Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands. .
van der Kooi AJ
van Spaendonck-Zwarts KY
Verhamme C
Baas F
de Visser M
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Mar 19; Vol. 9, pp. 38. Date of Electronic Publication: 2014 Mar 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Genetic Predisposition to Disease*
Arthrogryposis/*genetics
Charcot-Marie-Tooth Disease/*genetics
Hereditary Sensory and Motor Neuropathy/*genetics
Myelin Proteins/*genetics
Arthrogryposis/diagnosis ; Arthrogryposis/therapy ; Charcot-Marie-Tooth Disease/therapy ; Genetic Counseling ; Hereditary Sensory and Motor Neuropathy/diagnosis ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans ; Point Mutation ; Prognosis
SCR Disease Name:
Tomaculous neuropathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Parental age and the risk of amyotrophic lateral sclerosis.
Autorzy:
de Jong SW; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.
Huisman MH
Hennekam EA
Sutedja NA
van der Kooi AJ
de Visser M
Schelhaas HJ
Fischer K
Veldink JH
van den Berg LH
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2013 Apr; Vol. 14 (3), pp. 224-7. Date of Electronic Publication: 2012 Nov 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Parents*
Amyotrophic Lateral Sclerosis/*diagnosis
Amyotrophic Lateral Sclerosis/*epidemiology
Population Surveillance/*methods
Adult ; Age Factors ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Netherlands/epidemiology ; Prospective Studies ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Response to 'Exploring limits of neuropsychological screening in ALS: the FAB problem'.
Autorzy:
Raaphorst J
Beeldman E
Schmand B
Van Den Berg LH
De Visser M
De Haan RJ
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2013 Mar; Vol. 14 (2), pp. 159-60. Date of Electronic Publication: 2013 Jan 04.
Typ publikacji:
Letter; Comment
MeSH Terms:
Diagnostic Self Evaluation*
Neuropsychological Tests*
Surveys and Questionnaires*
Amyotrophic Lateral Sclerosis/*diagnosis
Psychometrics/*methods
Female ; Humans ; Male
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Is the Frontal Assessment Battery reliable in ALS patients?
Autorzy:
Raaphorst J
Beeldman E
Jaeger B
Schmand B
van den Berg LH
Weikamp JG
Schelhaas HJ
de Visser M
de Haan RJ
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2013 Jan; Vol. 14 (1), pp. 73-4. Date of Electronic Publication: 2012 Aug 13.
Typ publikacji:
Letter
MeSH Terms:
Diagnostic Self Evaluation*
Neuropsychological Tests*
Surveys and Questionnaires*
Amyotrophic Lateral Sclerosis/*diagnosis
Psychometrics/*methods
Female ; Humans ; Male ; Middle Aged ; Reproducibility of Results ; Sensitivity and Specificity
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Autorzy:
Lemmers RJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Tawil R
Petek LM
Balog J
Block GJ
Santen GW
Amell AM
van der Vliet PJ
Almomani R
Straasheijm KR
Krom YD
Klooster R
Sun Y
den Dunnen JT
Helmer Q
Donlin-Smith CM
Padberg GW
van Engelen BG
de Greef JC
Aartsma-Rus AM
Frants RR
de Visser M
Desnuelle C
Sacconi S
Filippova GN
Bakker B
Bamshad MJ
Tapscott SJ
Miller DG
van der Maarel SM
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Źródło:
Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1370-4. Date of Electronic Publication: 2012 Nov 11.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Chromosomal Proteins, Non-Histone/*genetics
Heredity/*genetics
Homeodomain Proteins/*genetics
Muscular Dystrophy, Facioscapulohumeral/*genetics
Adult ; Aged ; Chromosomes, Human, Pair 18/genetics ; CpG Islands/genetics ; DNA Methylation/genetics ; Epigenesis, Genetic ; Female ; Haplotypes ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
Autorzy:
van der Beek NA; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 's-Gravendijkwal 230, 3015 CE, Rotterdam, the Netherlands. .
de Vries JM
Hagemans ML
Hop WC
Kroos MA
Wokke JH
de Visser M
van Engelen BG
Kuks JB
van der Kooi AJ
Notermans NC
Faber KG
Verschuuren JJ
Reuser AJ
van der Ploeg AT
van Doorn PA
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Nov 12; Vol. 7, pp. 88. Date of Electronic Publication: 2012 Nov 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Glycogen Storage Disease Type II/*diagnosis
Adult ; Aged ; Disease Progression ; Female ; Glycogen Storage Disease/diagnosis ; Glycogen Storage Disease/enzymology ; Glycogen Storage Disease/pathology ; Glycogen Storage Disease Type II/enzymology ; Glycogen Storage Disease Type II/pathology ; Humans ; Male ; Middle Aged ; Prospective Studies ; alpha-Glucosidases/genetics ; alpha-Glucosidases/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A systematic review of behavioural changes in motor neuron disease.
Autorzy:
Raaphorst J; Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. />Beeldman E
De Visser M
De Haan RJ
Schmand B
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Źródło:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases [Amyotroph Lateral Scler] 2012 Oct; Vol. 13 (6), pp. 493-501. Date of Electronic Publication: 2012 Mar 16.
Typ publikacji:
Journal Article; Review; Systematic Review
MeSH Terms:
Behavior/*physiology
Cognition Disorders/*etiology
Motor Neuron Disease/*complications
Motor Neuron Disease/*psychology
Databases, Factual/statistics & numerical data ; Frontotemporal Dementia/complications ; Frontotemporal Dementia/psychology ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
Autorzy:
de Vries JM; Department of Neurology & Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
van der Beek NA
Hop WC
Karstens FP
Wokke JH
de Visser M
van Engelen BG
Kuks JB
van der Kooi AJ
Notermans NC
Faber CG
Verschuuren JJ
Kruijshaar ME
Reuser AJ
van Doorn PA
van der Ploeg AT
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Sep 26; Vol. 7, pp. 73. Date of Electronic Publication: 2012 Sep 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Glycogen Storage Disease Type II/*drug therapy
alpha-Glucosidases/*therapeutic use
Adult ; Aged ; Cohort Studies ; Female ; Glycogen Storage Disease Type II/enzymology ; Glycogen Storage Disease Type II/physiopathology ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/physiopathology ; Prognosis ; Respiration, Artificial ; Respiratory Function Tests
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Autorzy:
Engelen M; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. />Kemp S
de Visser M
van Geel BM
Wanders RJ
Aubourg P
Poll-The BT
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Aug 13; Vol. 7, pp. 51. Date of Electronic Publication: 2012 Aug 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Practice Guidelines as Topic*
Adrenoleukodystrophy/*diagnosis
Adrenoleukodystrophy/*therapy
Adolescent ; Adrenoleukodystrophy/genetics ; Adrenoleukodystrophy/physiopathology ; Adult ; Child ; Diagnosis, Differential ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Phenotype ; Prognosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetic overlap between apparently sporadic motor neuron diseases.
Autorzy:
van Blitterswijk M; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
Vlam L
van Es MA
van der Pol WL
Hennekam EA
Dooijes D
Schelhaas HJ
van der Kooi AJ
de Visser M
Veldink JH
van den Berg LH
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Źródło:
PloS one [PLoS One] 2012; Vol. 7 (11), pp. e48983. Date of Electronic Publication: 2012 Nov 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Muscular Atrophy, Spinal/*genetics
Adult ; Age of Onset ; Aged ; DNA-Binding Proteins/genetics ; Endosomal Sorting Complexes Required for Transport/genetics ; Female ; Genotype ; Haplotypes ; Humans ; Male ; Middle Aged ; RNA-Binding Protein FUS/genetics ; Ribonuclease, Pancreatic/genetics ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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