Výsledky vyhledávání - "A.A. Tieleman"

Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2

Autor: Johanne M. Groothuismink, Manon Damen, Mascha M.V.A.P. Schijvenaars, Marlies Schimmel-Naber, A.A. Tieleman, Marieke J H Coenen

Publikováno v: Journal of Neuromuscular Diseases, 8, 715-722
Journal of Neuromuscular Diseases, 8, 4, pp. 715-722

Background: Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6129650892a4acf407400b9ea40a10d8
https://hdl.handle.net/2066/236726

Zobrazit plný text záznamu

High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study

Autor: Fran H.P. Smulders, A.A. Tieleman, Joost Raaphorst, Joost Berends, Baziel G.M. van Engelen, Nicol C. Voermans, Corinne G.C. Horlings

Publikováno v: Neuromuscular Disorders, 29, 758-765
Neuromuscular disorders, 29(10). Elsevier Limited
Neuromuscular Disorders, 29, 10, pp. 758-765

We aimed to examine the incidence as well as the circumstances and the consequences of falling in adult patients with myotonic dystrophy type 1 and 2 (DM1/DM2). We performed a prospective cohort study in 209 subjects, of which 102 had DM1, 42 had DM2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb2fd0c47cacebd58209292dda3a297
https://doi.org/10.1016/j.nmd.2019.08.012

Zobrazit plný text záznamu

Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2

Autor: Hans Timmerman, A.A. Tieleman, Oliver H.G. Wilder-Smith, Judith van Vliet, Aad Verrips, Baziel G.M. van Engelen, Robert van Dongen

Publikováno v: van Vliet, J, Tieleman, A A, Verrips, A, Timmerman, H, van Dongen, R T M, van Engelen, B G M & Wilder-Smith, O H G 2018, ' Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2 ', Journal of Pain, vol. 19, no. 8, pp. 920-930 . https://doi.org/10.1016/j.jpain.2018.03.006
Journal of Pain, 19, 920-930
Journal of Pain, 19, 8, pp. 920-930

Pain is a common but often ignored symptom in patients with myotonic dystrophy type 2 (DM2). In this explorative study, we assessed qualitative and quantitative aspects of pain in DM2 using 4 questionnaires and quantitative sensory testing. A disease

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b64c530ca8aea05bf21eed3418c86743
https://doi.org/10.1016/j.jpain.2018.03.006

Zobrazit plný text záznamu

Graves' disease and celiac disease in a patient with myotonic dystrophy type 2

Autor: M.J. Damen, A. F. G. van der Meer, A.A. Tieleman, Nicol C. Voermans

Publikováno v: Neuromuscular Disorders, 28, 10, pp. 878-880
Neuromuscular Disorders, 28, 878-880

We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also had two autoimmune disorders in her history, namely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f019720ce04250eece347554d243687b
https://doi.org/10.1016/j.nmd.2018.07.003

Zobrazit plný text záznamu

First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features()

Autor: William Howlett, H.A. van Duyvenvoorde, A.A. Tieleman, O.J. Igogo, Marieke C. J. Dekker, Ben C.J. Hamel

Publikováno v: Neuromuscular Disorders, 29, 317-320
Neuromuscular Disorders, 29, 4, pp. 317-320
Neuromuscular Disorders, 29(4), 317-320. PERGAMON-ELSEVIER SCIENCE LTD

In African neurological practice, muscle disorders are either underdiagnosed or underrepresented. This may in part be due to the large burden of other more common neurological disorders. In this report we describe the first Tanzanian patient with gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0752a7384cf77838f3b6b66d836efc0
http://hdl.handle.net/2066/207145

Zobrazit plný text záznamu

Hearing impairment in patients with myotonic dystrophy type 2

Autor: G. Bassez, Wim I. M. Verhagen, A.A. Tieleman, Judith van Vliet, George Lamas, Joost A.M. Engel, Elisabeth Mamelle, Baziel G.M. van Engelen, Tanya Stojkovic, Anthony Béhin, Bruno Eymard, Laurent Servais, Jan Meulstee

Publikováno v: Neurology
Neurology, 2018, 90 (7), pp.e615-e622. ⟨10.1212/WNL.0000000000004963⟩
Neurology, 90, 7, pp. E615-E622
Neurology, 90, E615-E622

ObjectiveTo systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2).MethodsPatients with DM2 were included prospectively in an international cross-sectional study. A stru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee90eb21eafbfb1f4322cb5d336091b3
https://hal.science/hal-03875067

Zobrazit plný text záznamu

No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome

Autor: A.A. den Broeder, A.A. Tieleman, H. Cats, Hans Scheffer, Aad Verrips, J.A. van der Vliet, B.G.M. van Engelen

Publikováno v: Neuromuscular Disorders, 26, 370-3
Neuromuscular Disorders, 26, 6, pp. 370-3

Item does not contain fulltext Myotonic dystrophy type 2 (DM2) is a rare, autosomal dominant, multisystem disorder with proximal weakness, myotonia, pain and cataract as important symptoms. Given the assumed underreporting of DM2 in the Netherlands c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66bb2332328e49d80d2297d9ed47f06c
http://hdl.handle.net/2066/167988

Zobrazit plný text záznamu

Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2

Autor: Baziel G.M. van Engelen, Hans Knoop, Anne-Els van de Logt, Gijs Bleijenberg, Sebastiaan Overeem, A.A. Tieleman

Publikováno v: Journal of Neurology, Neurosurgery, and Psychiatry, 81, 9, pp. 963-7
Journal of Neurology, Neurosurgery, and Psychiatry, 81, 963-7

Contains fulltext : 89720.pdf (Publisher’s version ) (Closed access) BACKGROUND: In myotonic dystrophy type 1 (DM1), sleep disorders are common, with excessive daytime sleepiness (EDS) as a predominant feature. In myotonic dystrophy type 2 (DM2), t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06253a7e6a89ac9d3935dbdb4e4dde5e
https://doi.org/10.1136/jnnp.2009.192591

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2

Autor: Anneke J. van der Kooi, A.A. Tieleman, Judith van Vliet, George F. Borm, Baziel G.M. van Engelen, Jan B.M.J. Jansen

Publikováno v: Neuromuscular disorders, 18(8), 646-649. Elsevier Limited
Neuromuscular Disorders, 18, 8, pp. 646-9
Neuromuscular Disorders, 18, 646-9

Contains fulltext : 70215.pdf (Publisher’s version ) (Closed access) The phenotype of DM2 shows similarities as well as differences to that of Myotonic Dystrophy type 1 (DM1). Gastrointestinal dysfunction is common in DM1 and 25% of the patients co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41226f054e01e1586459a9814abc5ecf
https://doi.org/10.1016/j.nmd.2008.05.010

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání