Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Maartje Pennings"'
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Akademický článek
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Autor: Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Publikováno v: Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Abstract Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their
Externí odkaz: https://doaj.org/article/444b339bc7834262a4908fed8af18424
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2
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
Autor: Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Publikováno v: European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f31ede36885a44f2e2db895281d340
https://hdl.handle.net/2066/293778
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3
Genetic characterization of primary lateral sclerosis
Autor: Eva M. J. de Boer, Balint S. de Vries, Maartje Pennings, Erik-Jan Kamsteeg, Jan H. Veldink, Leonard H. van den Berg, Michael A. van Es
Publikováno v: Journal of Neurology.
Background and objectives Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients present with slowly progressive spasticity of the legs, which may also spread to the arms or bulbar re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1f867ab24ddabb88495089cc27ca2c2
https://doi.org/10.1007/s00415-023-11746-7
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4
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
Autor: Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren-Bemelmans, Maartje Pennings, Eddy N. de Boer, Berry Kremer, Els K. Vanhoutte, Jeroen J. de Vries, Raymond van de Berg, Erik-Jan Kamsteeg, Cleo C. van Diemen, Helga Westers, Bart P. van de Warrenburg, Dineke S. Verbeek
Publikováno v: Journal of Neurology, 269, 11, pp. 6086-6093
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG
Recently, an intronic biallelic (AAGGG)n repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat expansion in Dutch cases was unknown, we retrospectively tested 9
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb2b2d8a088911455915fbe776cc272
https://hdl.handle.net/2066/287463
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5
The complexities of CACNA1A in clinical neurogenetics
Autor: Marina P Hommersom, Teije van Prooije, Hans van Bokhoven, Erik-Jan Kamsteeg, Bart P.C. van de Warrenburg, Maartje Pennings, Meyke Schouten
Publikováno v: Web of Science
Journal of Neurology, 269, 6, pp. 3094-3108
Journal of Neurology, 269, 3094-3108
Item does not contain fulltext Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been associated with a broader spectrum of pheno
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad09235e045bde0e23863837cf100039
https://doi.org/10.1007/s00415-021-10897-9
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7
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
Autor: Anneke J. van der Kooi, Benno Küsters, Catharina G. Faber, Corien C. Verschuuren-Bemelmans, Corrie E. Erasmus, Nicol C. Voermans, Baziel G.M. van Engelen, Erik-Jan Kamsteeg, Heinz Jungbluth, Floor A. M. Duijkers, Bregje Jaeger, Meyke Schouten, Stacha F. I. Reumers, Karlijn Bouman, Maartje Pennings
Publikováno v: Clinical Genetics, 100(6), 692-702. Wiley
Clinical Genetics, 100, 6, pp. 692-702
Clinical Genetics, 100(6), 692-702. Wiley-Blackwell
Clinical genetics, 100(6), 692-702. Wiley-Blackwell
Clinical Genetics, 100, 692-702
Reumers, S F I, Erasmus, C E, Bouman, K, Pennings, M, Schouten, M, Kusters, B, Duijkers, F A M, van der Kooi, A, Jaeger, B, Verschuuren-Bemelmans, C C, Faber, C G, van Engelen, B G, Kamsteeg, E J, Jungbluth, H & Voermans, N C 2021, ' Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands ', Clinical Genetics, vol. 100, no. 6, pp. 692-702 . https://doi.org/10.1111/cge.14054
Contains fulltext : 241356.pdf (Publisher’s version ) (Open Access) Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory involvement. Th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad81111a93fe40576ceea6d3ddf3370f
https://hdl.handle.net/2066/241356
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8
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
Autor: Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune, Pauline Lallemant-Dudek, Typhaine Esteves, Maartje Pennings, Erik-Jan Kamsteeg, Marine Guillaud-Bataille, Guillaume Banneau, Giulia Coarelli, Badreddine Mohand Oumoussa, Matthew J. Fraidakis, Giovanni Stevanin, Christel Depienne, Bart van de Warrenburg, Alexis Brice, Alexandra Durr
Publikováno v: Genetics in Medicine, 24, 11, pp. 2308-2317
Genetics in Medicine, 24, 2308-2317
Genetics in Medicine
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Item does not contain fulltext PURPOSE: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9820e24a68552c2b74264ac6b3e33fdd
https://pubmed.ncbi.nlm.nih.gov/36056923
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9
Neuromuscular Features in XL-MTM Carriers A Cross-sectional Study in an Unselected Cohort
Autor: Daniëlle K. Franken, Karlijn Bouman, Stacha F.I. Reumers, Frederik Braun, Jennifer Spillane, Maartje Pennings, Saskia L.S. Houwen, Corrie E. Erasmus, Ulrike Schara-Schmidt, Erik-Jan Kamsteeg, Heinz Jungbluth, Nicol C. Voermans
Publikováno v: Neurology, 99, 20, pp. E2223-E2233
Neurology, 99, E2223-E2233
BackgroundX-linked myotubular myopathy (XL-MTM) is an early onset congenital myopathy characterized by mild to severe muscle weakness in males.ObjectiveTo characterize the clinical spectrum of neuromuscular features in X-linked myotubular myopathy (X
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92747e1e2124d6b0957fcbf17a94a58
https://repository.ubn.ru.nl/handle/2066/285918
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10
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Autor: Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers
Publikováno v: Genome Medicine, 14, 1
Genome Medicine, 14(1):66. BioMed Central Ltd
Genome Medicine, 14
Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referrin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dee9973de9723cdaec7657684004754
https://pubmed.ncbi.nlm.nih.gov/35710456
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