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Showing 1 to 12 of 84 entries
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Analysis of surface carbohydrates of Trichobilharzia ocellata miracidia and sporocysts using lectin binding techniques.

Parasitology

Gerhardus MJ, Baggen JM, Van Der Knaap WP, Sminia T.
PMID: 23589931
Parasitology. 1991 Aug;103:51-9. doi: 10.1017/s003118200005928x.

Miracidia and in vitro-derived primary sporocysts of the avian schistosome Trichobilharzia ocellata were studied for the expression and the characteristics of glycoconjugate moieties comprising the surface coat. Using a panel of 9 peroxidase labelled lectins, several different lectin binding...

Erratum to "Palynostratigraphy of the last centuries in Switzerland based on 23 lake and mire deposits: chronostratigraphic pollen markers, regional patterns, and local histories".

Review of palaeobotany and palynology

van der Knaap WO, van Leeuwen JF, Fankhauser A, Ammann B.
PMID: 11389919
Rev Palaeobot Palynol. 2001 Apr;114(3):269-270. doi: 10.1016/s0034-6667(01)00049-5.

No abstract available.

Calf muscle work and segment energy changes in human treadmill walking.

Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology

Hof AL, Nauta J, van der Knaap ER, Schallig MA, Struwe DP.
PMID: 20719614
J Electromyogr Kinesiol. 1992;2(4):203-16. doi: 10.1016/1050-6411(92)90024-D.

The relation between changes in potential and kinetic energy in a seven-segment model of the human body and the work of m. triceps surae was investigated in four subjects walking on a treadmill at speeds between 0.5 and 2.0...

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Brain : a journal of neurology

Simons C, Dyment D, van der Knaap MS, Wolf NI.
PMID: 29444246
Brain. 2018 May 01;141(5):e37. doi: 10.1093/brain/awy030.

No abstract available.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Brain : a journal of neurology

Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL.
PMID: 34415310
Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313.

Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3,...

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

American journal of medical genetics. Part A

Stutterd CA, Kidd A, Florkowski C, Janus E, Fanjul M, Raizis A, Wu TY, Archer J, Leventer RJ, Amor DJ, Lukic V, Bahlo M, Gow P, Lockhart PJ, van der Knaap MS, Delatycki MB.
PMID: 34089223
Am J Med Genet A. 2021 Oct;185(10):2941-2950. doi: 10.1002/ajmg.a.62377. Epub 2021 Jun 04.

Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of children with severe progressive neurological disease...

Behavioural responses of wild Pacific salmon and herring to boat noise.

Marine pollution bulletin

van der Knaap I, Ashe E, Hannay D, Bergman AG, Nielsen KA, Lo CF, Williams R.
PMID: 34933218
Mar Pollut Bull. 2021 Dec 18;174:113257. doi: 10.1016/j.marpolbul.2021.113257. Epub 2021 Dec 18.

There is growing concern about impacts of ship and small boat noise on marine wildlife. Few studies have quantified impacts of anthropogenic noise on ecologically, economically, and culturally important fish. We conducted open net pen experiments to measure Pacific...

Neonatal quantitative electroencephalography and long-term outcomes: a systematic review.

Developmental medicine and child neurology

VAN 't Westende C, Geraedts VJ, VAN Ramesdonk T, Dudink J, Schoonmade LJ, VAN DER Knaap MS, Stam CJ, VAN DE Pol LA.
PMID: 34932822
Dev Med Child Neurol. 2021 Dec 21; doi: 10.1111/dmcn.15133. Epub 2021 Dec 21.

AIM: To evaluate quantitative electroencephalogram (EEG) measures as predictors of long-term neurodevelopmental outcome in infants with a postconceptional age below 46 weeks, including typically developing infants born at term, infants with heterogeneous underlying pathologies, and infants born preterm.METHOD: A...

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.

Frontiers in physiology

van Ballegoij WJC, van de Stadt SIW, Huffnagel IC, Kemp S, van der Knaap MS, Engelen M.
PMID: 32765293
Front Physiol. 2020 Jul 17;11:786. doi: 10.3389/fphys.2020.00786. eCollection 2020.

BACKGROUND: Myelopathy is the core clinical manifestation of adrenoleukodystrophy (ALD), which is the most common peroxisomal disorder. Development of therapies requires sensitive and clinically relevant outcome measures. Together with spastic paraparesis, balance disturbance is the main cause of disability...

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Frontiers in neurology

Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ.
PMID: 27899912
Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016.

In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severity of a genetic defect but...

Behavioural responses of wild Pacific salmon and herring to boat noise.

Marine pollution bulletin

van der Knaap I, Ashe E, Hannay D, Bergman AG, Nielsen KA, Lo CF, Williams R.
PMID: 34933218
Mar Pollut Bull. 2021 Dec 18;174:113257. doi: 10.1016/j.marpolbul.2021.113257. Epub 2021 Dec 18.

There is growing concern about impacts of ship and small boat noise on marine wildlife. Few studies have quantified impacts of anthropogenic noise on ecologically, economically, and culturally important fish. We conducted open net pen experiments to measure Pacific...

History of atmospheric lead deposition since 12,370 (14)C yr BP from a peat bog, jura mountains, switzerland .

Science (New York, N.Y.)

Shotyk W, Weiss D, Appleby PG, Cheburkin AK, Gloor RFM, Kramers JD, Reese S, Van Der Knaap WO.
PMID: 9733502
Science. 1998 Sep 11;281(5383):1635-40. doi: 10.1126/science.281.5383.1635.

A continuous record of atmospheric lead since 12,370 carbon-14 years before the present (14C yr BP) is preserved in a Swiss peat bog. Enhanced fluxes caused by climate changes reached their maxima 10, 590 (14)C yr BP (Younger Dryas)...

Showing 1 to 12 of 84 entries