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of 212
pro vyhledávání: '"B. G. M. Van Engelen"'
Publikováno v:
Wat is er met de dokter gebeurd? ISBN: 9789036821520
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45eca2bd075a16b21bfd994e5dd0aa7c
https://doi.org/10.1007/978-90-368-2153-7_31
https://doi.org/10.1007/978-90-368-2153-7_31
Autor:
M G E, Te Riele, T H A, Schreuder, N, van Alfen, M, Bergman, S, Pillen, B W, Smits, G J, van der Wilt, H, Groenewoud, N C, Voermans, B G M, van Engelen
Publikováno v:
Neuromuscular disorders : NMD. 27(3)
Myalgia, fatigue, and exercise intolerance are cause for referral to a neurologist. However, the diagnostic value of history, neurological examination, and ancillary investigations in patients with these symptoms is unknown. This study provides a sou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dcf3fe2e0244e32ddf9579b99a8e137f
https://pubmed.ncbi.nlm.nih.gov/28082206
https://pubmed.ncbi.nlm.nih.gov/28082206
Publikováno v:
The Netherlands journal of medicine. 70(10)
Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) are different syndromes, but are caused by the same m.3243AG mutation in mitochondrial DNA. Why some patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4d31802fb3f2e9fcd4b8bb676ea735ee
https://pubmed.ncbi.nlm.nih.gov/23230016
https://pubmed.ncbi.nlm.nih.gov/23230016
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 57:65-68
Spontaneous remyelination occurs in experimental models of demyelination and in patients with multiple sclerosis, although to a limited extent. This enables the search for factors that promote remyelination. Using the Theiler's virus model of central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952fd0d0cb10df43e25bac29b656754d
https://doi.org/10.1136/jnnp.57.suppl.65
https://doi.org/10.1136/jnnp.57.suppl.65
Publikováno v:
Nederlands tijdschrift voor tandheelkunde. 117(1)
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b36cfdbb93f783aacbdba7458c9f05f2
https://pubmed.ncbi.nlm.nih.gov/20180344
https://pubmed.ncbi.nlm.nih.gov/20180344
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 152(42)
Mitochondrial disorders are caused by a defect in intracellular energy production. In general, these are multi-system disorders, predominantly affecting organs with high energy requirements. Due to the fact that mitochondrial disorders are not as rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::304b2ba9943d01e516452ed9618bdc87
https://pubmed.ncbi.nlm.nih.gov/19009881
https://pubmed.ncbi.nlm.nih.gov/19009881
Autor:
B G M, van Engelen
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 151(33)
While developments in molecular biology have been giving rise to breakthroughs in diagnosis, management and promising treatment approaches for neuromuscular disorders, there has been a silent revolution in ventilatory support of patients with a range
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d416f5458ae7a875f72891ab4eabeed9
https://pubmed.ncbi.nlm.nih.gov/17874640
https://pubmed.ncbi.nlm.nih.gov/17874640
Autor:
J E, Hoogendijk, J W J, Bijlsma, B G M, van Engelen, E, Lindeman, A, van Royen-Kerkhof, M A, de Rie, M, de Visser, F G I, Jennekens
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 149(38)
This guideline presents recommendations for the diagnosis and treatment of dermatomyositis, polymyositis and sporadic inclusion body myositis (sIBM) according to the best available evidence. Characteristic skin abnormalities can be sufficient for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8120e7932ebdeeaca04dd7a38526c52c
https://pubmed.ncbi.nlm.nih.gov/16201600
https://pubmed.ncbi.nlm.nih.gov/16201600
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 149(38)
Channelopathies are a heterogeneous group of genetic diseases in which a defective ion channel is responsible for the symptoms. They manifest as diseases of the heart, brain or skeletal muscle. Hereditary skeletal-muscle channelopathies are character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5084a23b7007da8a230dfe893d3b45c7
https://pubmed.ncbi.nlm.nih.gov/16201598
https://pubmed.ncbi.nlm.nih.gov/16201598
Autor:
P L. M Huygen, B G. M van Engelen, M Engelhart, Wim I. M. Verhagen, P J. W. B van Mierlo, A.A.W.M. Gabreëls-Festen
Publikováno v:
Otology & Neurotology, 26, 3, pp. 405-14
Otology & Neurotology, 26, 405-14
Otology & Neurotology, 26, 405-14
Contains fulltext : 48368.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To characterize and distinguish the types of sensorineural hearing impairment (SNHI) that occur in hereditary motor and sensory neuropathy Type 1a (HMSN-1a) and heredit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9491b70599eaa52d50cb7114fbb1e30e
https://hdl.handle.net/2066/48368
https://hdl.handle.net/2066/48368