Zobrazeno 1 - 10 of 72 pro vyhledávání: '"L.M.E. Smit"'
1
Deficiency of the voltage-dependent anion channel: A novel cause of mitochondriopathy
Autor: L.P.W.J. van den Heuvel, V. DePinto, L.M.E. Smit, H.J. ter Laak, Marjan Huizing, Wim Ruitenbeek, F.P. Thinnes, U.A.H. Wendel, Frans J.M. Trijbels
Publikováno v: Pediatric Research, 39, 5, pp. 760-765
Pediatric Research, 39, 760-765
Pediatric Research, 39, pp. 760-765
Contains fulltext : 23663___.PDF (Publisher’s version ) (Open Access) A patient with a deficient voltage-dependent anion channel (VDAC) is reported, presenting clinically with psychomotor retardation and minor dysmorphic features. Biochemical studi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dde9b758a134c83eb593f4437a25564
https://hdl.handle.net/2066/188324
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2
Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies
Autor: Ad Reekers, Henk Veldman, L.M.E. Smit, Pierre Theunissen, Frank Spaans
Publikováno v: Muscle & Nerve. 13:516-527
In a new, typical case of Schwartz-Jampel syndrome (SJS) the origin of the disorder was found to be purely myogenic. Concentric needle EMG showed abundant and persistent spontaneous activity, maximal at insertion, and uninfluenced by local curarizati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7034a1ca6995f18e176ae68a95349c57
https://doi.org/10.1002/mus.880130608
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3
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
Autor: R.F.M. de Coo, I.J. de Wijs, B.A. van Oost, L.M.E. Smit, Erik A. Sistermans, F.H. Menko
Publikováno v: Human Genetics, 97(3), 337-339. Springer Verlag
Human Genetics, 97, 337-339
Human Genetics, 97, pp. 337-339
Human Genetics, 97, 3, pp. 337-339
Sistermans, E A, De Wijs, I J, De Coo, R F M, Smit, L M E, Menko, F H & Van Oost, B A 1996, ' A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family ', Human Genetics, vol. 97, no. 3, pp. 337-339 . https://doi.org/10.1007/BF02185767
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from mutations in the proteolipid protein (PLP) gene. Mutations causing either overexpression or expr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e11a1546e8dce16a66947fad58f42e0
https://pubmed.ncbi.nlm.nih.gov/8786077
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4
Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis
Autor: L.M.E. Smit, Peter G. Barth, M.S. van der Knaap, P. Tortori Donati, J. Valk, B.G.M. van Engelen
Publikováno v: van der Knaap, M S, Valk, J, Barth, P G, Smit, L M E, van Engelen, B G M & Donati, P T 1995, ' Leukoencephalopathy with swelling in children and adolescents : MRI patterns and differential diagnosis ', Neuroradiology, vol. 37, no. 8, pp. 679-686 . https://doi.org/10.1007/BF00593394
Neuroradiology, 37(8), 679-686. Springer Verlag
In children, several neurological disorders are characterised by spongiform leukoencephalopathy. MRI of the brain typically shows white matter swelling, but does not enable differentiation of the various underlying disorders. The aim of this article
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14647ca48178c26078aa129d8204a85a
https://pubmed.ncbi.nlm.nih.gov/8748906
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5
Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging
Autor: Jaap Valk, Parvin C. Azimullah, Elisabeth Rietveld-Knol, L.M.E. Smit
Publikováno v: Child's Nervous System. 7
The incidence of associated malformations of the hindbrain and spinal cord in patients with spina bifida was investigated by a clinical and magnetic resonance study. The incidence of these malformations in combination with spina bifida was 49/53 (92.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e521f0855875976957f8e26cb013634f
https://doi.org/10.1007/bf00247858
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10
Paucity of secondary synaptic clefts in a case of congenital myasthenia with multiple contractures: ultrastructural morphology of a developmental disorder
Autor: H. Veldman, Peter G. Barth, L.M.E. Smit, Frans G. I. Jennekens
Publikováno v: Journal of neurology, neurosurgery, and psychiatry, 47(10), 1091-1097. BMJ Publishing Group
A new form of congenital myasthenia is described. An infant whose foetal movements during pregnancy had been weak presented at birth with muscle weakness and multiple contractures of the lower limbs. The clinical course was characterised by myastheni
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::799fd51803f2a66b074f589458a319fe
https://doi.org/10.1136/jnnp.47.10.1091
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