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Auteur Kamsteeg EJ |
Documents disponibles écrits par cet auteur



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Anaesthesia and neuromuscular disorders: what a neurologist needs to know
van den Bersselaar LR, Snoeck MMJ, Gubbels M, et al.
Practical Neurology, 2020
Revue : Practical Neurology Titre : Anaesthesia and neuromuscular disorders: what a neurologist needs to know Type de document : Article Auteurs : van den Bersselaar LR ; Snoeck MMJ ; Gubbels M ; Riazi S ; Kamsteeg EJ ; Jungbluth H ; Voermans NC Editeur : England Année de publication : 27/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33109742 / DOI : 10.1136/practneurol-2020-002633
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33109742 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort S, Mohassel P, Laugwitz L, et al.
American journal of medical genetics. Part A, 2020
Revue : American journal of medical genetics. Part A Titre : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome Type de document : Article Auteurs : Donkervoort S ; Mohassel P ; Laugwitz L ; Zaki MS ; Kamsteeg EJ ; Maroofian R ; Chao KR ; Verschuuren-Bemelmans CC ; Horber V ; Fock AJM ; McCarty RM ; Jain MS ; Biancavilla V ; McMacken G ; Nalls M ; Voermans NC ; Elbendary HM ; Snyder M ; Cai C ; Lehky TJ ; Stanley V ; Iannaccone ST ; Foley AR ; Lochmuller H ; Gleeson J ; Houlden H ; Haack TB ; Horvath R ; Bonnemann CG Editeur : United States Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32776697 / DOI : 10.1002/ajmg.a.61765
N° Profil MNM : 2020081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32776697 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy
van Tol W, van Scherpenzeel M, Alsady M, et al.
Clinical chemistry, 2019
Revue : Clinical chemistry Titre : Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy Type de document : Article Auteurs : van Tol W, Auteur ; van Scherpenzeel M ; Alsady M ; Riemersma M ; Hermans E ; Kragt E ; Tasca G ; Kamsteeg EJ ; Pennings M ; van Beusekom E ; Vermeulen JR ; van Bokhoven H ; Voermans NC ; Willemsen MA ; Ashikov A ; Lefeber DJ Editeur : England Année de publication : 08/2019 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31375477 / DOI : 10.1373/clinchem.2019.305391
N° Profil MNM : 2019081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31375477 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Leferink M, Wong DPW, Cai S, et al.
Scientific Reports, 2019, 9, n1, p 8280
Revue : Scientific Reports, 9, n1 Titre : Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. Type de document : Article Auteurs : Leferink M, Auteur ; Wong DPW ; Cai S ; Yeo M ; Ho J ; Lian M ; Kamsteeg EJ ; Chong SS ; Haer-Wigman L ; Guan M Editeur : England Année de publication : 06/2019 Pages : p 8280 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31164682 / DOI : 10.1038/s41598-019-44588-3
N° Profil MNM : 2019061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31164682 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Westra D, Schouten MI, Stunnenberg BC, et al.
Journal of Neuromuscular Diseases, 2019, 6, 2, p 241
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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
van Ruitenbeek E, Custers JAE, Verhaak C, et al.
Neuromuscular disorders : NMD, 2019, 29, 1, p 30
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
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Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
Stunnenberg BC, Raaphorst J, Deenen JCW, et al.
Neuromuscular disorders : NMD, 2018
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Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
Witting N, Laforêt P, Voermans NC, et al.
Acta neurologica Scandinavica, 2018, 137, 5, p 452
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Zaharieva IT, Thor MG, Oates EC, et al.
Brain : a journal of neurology, 2016, 139, Pt3, p 674
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Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome
O'Grady GL, Verschuuren C, Yuen M, et al.
Neurology, 2016, 87, 14, p 1442
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RYR1-related myopathies: a wide spectrum of phenotypes throughout life
Snoeck M, van Engelen BG, Küsters B, et al.
European journal of neurology : the official journal of the European Federation of Neurological Societies, 2015, 22, 7, p 1094
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Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability
Donkervoort S, Hu Y, Stojkovic T, et al.
Human mutation, 2015, 36, 1, p 48
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Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
Buysse K, Riemersma M, Powell G, et al.
Human molecular genetics, 2013, 22, 9, p. 1746-1754
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A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Loseth S, Voermans NC, Torbergsen T, et al.
Journal of neurology, 2013, 206, 6, p. 1504-1510
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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
Dlamini N, Voermans NC, Lillis S, et al.
Neuromuscular disorders : NMD, 2013, 23, 7, p. 540-548
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Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
Kamsteeg EJ, Kress W, Catalli C, et al.
European journal of human genetics, 2012, 20, 12, p. 1203-1208
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan
Roscioli T, Kamsteeg EJ, Buysse K, et al.
Nature genetics, 2012, Epub 2012/04/24
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Brody syndrome: A clinically heterogeneous entity distinct from Brody disease : A review of literature and a cross-sectional clinical study in 17 patients
Voermans NC, Laan AE, Oosterhof A, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p. 944-954
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Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
Voermans NC, Laan AE, Oosterhof A, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p 944
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