Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Autor: W. H. J. P. Linssen, Ludo van der Pol, Nicol C. Voermans, René de Coo, Annemarie Fock, Ieke B. Ginjaar, Jessica E. Hoogendijk, Marianne de Visser, Karin G. Faber, Jan B. M. Kuks, Aad Verrips, Anneke J. van der Kooi, Erik H. Niks, Esther Brusse, Dineke Westra, Leroy ten Dam, Chiara S. M. Straathof, W. S. Frankhuizen

Publikováno v: Clinical Genetics, 96, 126-133
Clinical Genetics, 96(2), 126-133. Wiley
Clinical Genetics, 96, 2, pp. 126-133
Clinical Genetics, 96(2), 126-133. Wiley-Blackwell Publishing Ltd
Clinical genetics, 96(2), 126-133. Wiley-Blackwell
Clinical Genetics, 96(2), 126-133

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88c33d642921b9cb1b50567c5c9f669
https://pure.eur.nl/en/publications/fea36a87-4c8c-4bf4-81c3-b0b74f15b70a

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

Autor: Anneke J. van der Kooi, Marianne de Visser, Leroy ten Dam, W. H. J. P. Linssen, Fleur Rövekamp

Publikováno v: Neuromuscular disorders, 24(12), 1097-1102. Elsevier Limited

In this retrospective cross-sectional study clinical and muscle imaging data of patients with Miyoshi distal myopathy phenotype (MMD1 and MMD3) and limb girdle muscular dystrophy 2L (LGMD2L) were described. MMD1 and MMD3 are genetically heterogenous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3434c87cddd3455dff934403c0ff8bc
https://doi.org/10.1016/j.nmd.2014.07.004

The ALS-FTD-Q A new screening tool for behavioral disturbances in ALS

Autor: R.J. de Haan, Joris J. Berkhout, M. de Visser, L. H. van den Berg, J. C. van Swieten, Joost Raaphorst, Janne M. Papma, Emma Beeldman, Helenius J. Schelhaas, Janneke G. Weikamp, Hepke F Grupstra, Yolande A.L. Pijnenburg, Ben Schmand, W. H. J. P. Linssen

Publikováno v: Neurology, 79(13), 1377-1383. Lippincott Williams & Wilkins
Neurology, 79(13), 1377-1383. Lippincott Williams and Wilkins
Raaphorst, J, Beeldman, E, Schmand, B, Berkhout, J, Linssen, W H J P, Van den Berg, L H, Pijnenburg, Y A L, Grupstra, H F, Weikamp, J G, Schelhaas, H J, Papma, J M, van Swieten, J C, de Visser, M & de Haan, R J 2012, ' The ALS-FTD-Q: A new screening tool for behavioral disturbances in ALS ', Neurology, vol. 79, no. 13, pp. 1377-1383 . https://doi.org/10.1212/WNL.0b013e31826c1aa1
Neurology, 79(13), 1377-1383. American Academy of Neurology
Neurology, 79, 13, pp. 1377-83
Neurology, 79, 1377-83

Objective: The assessment of behavioral disturbances in amyotrophic lateral sclerosis (ALS) is important because of the overlap with the behavioral variant of frontotemporal dementia (ALS-bvFTD). Motor symptoms and dysarthria are not taken into accou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0bd862f0ddcfd4a85ccfef20303ce74
https://pure.eur.nl/en/publications/f74cf928-cae8-4316-8dea-d34b5746ff1d

Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy

Autor: Marie-José van Tol, Marianne de Visser, W. H. J. P. Linssen, Anneke J. van der Kooi, Ben Schmand, Leonard H. van den Berg, Rob J. de Haan, Joost Raaphorst

Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry, 82(2), 170-175. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 82(2), 170-175. BMJ Publishing Group
Journal of Neurology, Neurosurgery and Psychiatry, 82(2), 170-175

AimIn contrast with findings in amyotrophic lateral sclerosis (ALS), cognitive impairments have as yet not been shown in the lower motor neuron variant of motor neuron disease, progressive spinal muscular atrophy (PMA). The objective of this study wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7870ee5b82de80d323e631c74cb108b
https://doi.org/10.1136/jnnp.2009.204446

The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis

Autor: Joost Raaphorst, Ben Schmand, W. H. J. P. Linssen, Marianne de Visser, Rob J. de Haan

Publikováno v: Amyotrophic Lateral Sclerosis, 11(1-2), 27-37. Informa Healthcare

We aimed to clarify the profile of cognitive impairment in ALS, by meta-analysis of published studies. Criteria for inclusion were: ALS diagnosed according to El Escorial criteria; control group matched for age and education; correction for bias due

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852c35a175b5ea3e8d35e59318fccc3c
https://doi.org/10.3109/17482960802645008