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Items: 18

1.

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected.

De Ridder W, Azmi A, Clemen CS, Eichinger L, Hofmann A, Schröder R, Johnson K, Töpf A, Straub V, De Jonghe P, Maudsley S, De Bleecker JL, Baets J.

Neurology. 2019 Dec 17. pii: 10.1212/WNL.0000000000008763. doi: 10.1212/WNL.0000000000008763. [Epub ahead of print]

PMID:
31848255
2.

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Hedberg-Oldfors C, De Ridder W, Kalev O, Böck K, Visuttijai K, Caravias G, Töpf A, Straub V, Baets J, Oldfors A.

Neuromuscul Disord. 2019 Dec;29(12):951-960. doi: 10.1016/j.nmd.2019.10.002. Epub 2019 Oct 23.

PMID:
31791869
3.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Töpf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G, Baets J.

Neurol Genet. 2019 Apr 1;5(2):e321. doi: 10.1212/NXG.0000000000000321. eCollection 2019 Apr.

4.

Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation.

Heytens K, De Ridder W, De Bleecker J, Heytens L, Baets J.

Anaesth Intensive Care. 2019 Mar;47(2):128-133. doi: 10.1177/0310057X19835830. Epub 2019 May 9.

PMID:
31070454
5.

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC.

J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20.

6.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

7.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V.

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):490-493. doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19. No abstract available.

8.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
9.

Effect of cisapride on myoelectrical and motor responses of antropyloroduodenal region during intraduodenal lipid and antral tachygastria in conscious dog.

Edelbroek M, Schuurkes J, De Ridder W, Horowitz M, Dent J, Akkermans L.

Dig Dis Sci. 1995 Apr;40(4):901-11.

PMID:
7720488
10.

Pyloric motility. Sleeve sensor versus strain gauge transducer.

Edelbroek M, Schuurkes J, de Ridder W, Horowitz M, Dent J, Akkermans L.

Dig Dis Sci. 1994 Mar;39(3):577-86.

PMID:
8131696
11.

Effect of adrenoceptor agonists on striated muscle strips of the canine oesophagus.

Tokuhara T, Meulemans AL, De Ridder WJ, Higashino M, Kinoshita H, Schuurkes JA.

Br J Pharmacol. 1993 Sep;110(1):297-302.

12.
13.

Computer-assisted method for the analysis of postprandial gastrointestinal motility in conscious dogs.

De Ridder WJ, Voeten JJ, Rombouts JA, Van Nueten JM, Schuurkes JA.

Med Biol Eng Comput. 1989 Sep;27(5):470-6.

PMID:
2622227
14.

Vasoconstrictor expression of human platelet-vessel wall interactions: inhibition by the Ca2+ entry blocker flunarizine.

Van Nueten JM, De Ridder W, Van Gorp L, De Clerck F.

Eur J Pharmacol. 1987 Jan 20;133(3):301-8.

PMID:
3104067
15.

Ketanserin and vascular contractions in response to cooling.

Van Nueten JM, De Ridder W, Vanhoutte PM.

Eur J Pharmacol. 1984 Apr 6;99(4):329-32.

PMID:
6734731
16.

Hypoxia and spasms in the cerebral vasculature.

Van Nueten JM, De Ridder W, Van Beek J.

J Cereb Blood Flow Metab. 1982;2 Suppl 1:S29-31. No abstract available.

PMID:
7085793
17.

Comparison of the responsiveness of isolated arteries and veins taken from the same dogs 17 days apart.

Verbeuren TJ, Coen E, De Ridder W, Vanhoutte PM.

Experientia. 1981 Jun;37(6):590-1.

PMID:
7262285
18.

Evoked release of endogenous norepinephrine in the canine saphenous vein. Inhibition by acetylcholine.

Vanhoutte PM, Coen EP, De Ridder WJ, Verbeuren TJ.

Circ Res. 1979 Nov;45(5):608-14. No abstract available.

PMID:
487523

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