Search Results - "Schelhaas, H.J"

Autism and behavior in adult patients with Dravet syndrome (DS) by Berkvens, J.J.L, Veugen, I, Veendrick-Meekes, M.J.B.M, Snoeijen-Schouwenaars, F.M, Schelhaas, H.J, Willemsen, M.H, Tan, I.Y, Aldenkamp, A.P

“…Abstract Introduction Autism and behavioral characteristics in adults with Dravet syndrome (DS) have rarely been systematically studied. Method Three scales…”
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The Lambert–Eaton myasthenic syndrome 1988–2008: A clinical picture in 97 patients by Titulaer, M.J, Wirtz, P.W, Kuks, J.B.M, Schelhaas, H.J, van der Kooi, A.J, Faber, C.G, van der Pol, W.L, de Visser, M, Sillevis Smitt, P.A.E, Verschuuren, J.J.G.M

“…Abstract Background Neuromuscular symptoms in patients with Lambert–Eaton myasthenic syndrome (LEMS) and a small cell lung cancer (SCLC) develop more rapidly…”
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Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene by Zwarts, M.J, Willemsen, M.H, Kamsteeg, E.-J, Schelhaas, H.J

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P 248. Cortical inhibition by Retigabine in epilepsy patients: Assessment by transcranial magnetic stimulation by Munneke, M.A.M, Zwarts, M.J, Stegeman, D.F, Schelhaas, H.J, Kleine, B.U

“…Introduction Transcranial magnetic stimulation (TMS) has been used to investigate the mechanism of action of several drugs. Sodium-channel blocking drugs…”
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Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe? by Snoeijen-Schouwenaars, F.M, Veendrick, M.J.B.M, van Mierlo, P, van Erp, G, de Louw, A.J.A, Kleine, B.U, Schelhaas, H.J, Tan, I.Y

“…Highlights • 33% of patients with CBZ-withdrawal showed an increase in tonic-clonic seizures. • Withdrawal of CBZ or OXC is not without risks. • Only withdraw…”
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W11.3 Cortical modulation in patients with amyotrophic lateral sclerosis by Munneke, M.A.M, Zwarts, M.J, Rongen, J.J, Schelhaas, H.J, Stegeman, D.F

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S35-5 Mechanisms of fasciculation by Kleine, B.U, Stegeman, D.F, Schelhaas, H.J, Zwarts, M.J

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Inhibition of cortical excitability by retigabine: Measurement of intracortical inhibition using transcranial magnetic stimulation by Zwarts, M.J, Munneke, M.A.M, Stegeman, D.F, Schelhaas, H.J, Kleine, B.U

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P12-20 Age-related changes in motor unit number estimates in adult patients with Charcot-Marie-Tooth type 1A by van Dijk, J.P, Verhamme, C, van Schaik, I.N, Schelhaas, H.J, Mans, E, Bour, L.J, Stegeman, D.F, Zwarts, M.J

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C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations by Voermans, N.C, Jungbluth, H, Raaphorst, J, Snoeck, M, Straathof, C, Schelhaas, H.J, Sie, L, de Coo, R, van de Pol, W, de Visser, M, Scheffer, H, Kamsteeg, E.J, van Engelen, B.G.M

“…Abstract RYR1-related myopathies have a very variable phenotype. Sequential analysis of RYR1 in the Netherlands has been performed since 2008. Our goal was to…”
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Electrodiagnostic criteria for ALS: Time to STARD by Schelhaas, H.J, Kleine, B.U, Zwarts, M.J

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Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation by Overeem, S, Schelhaas, H.J, Blijham, P.J, Grootscholten, M.I, ter Laak, H.J, Timmermans, J, van den Wijngaard, A, Zwarts, M.J

“…Abstract Mutations in the myosin heavy chain gene ( MYH7 ) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic…”
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Family history of neurodegenerative and vascular diseases in ALS: A population-based study by HUISMAN, M. H. B, DE JONG, S. W, VERWIJS, M. C, SCHELHAAS, H. J, VAN DER KOOI, A. J, DE VISSER, M, VELDINK, J. H, VAN DEN BERG, L. H

“…To determine whether the frequency of Parkinson disease (PD), dementia, and vascular diseases in relatives of patients with amyotrophic lateral sclerosis (ALS)…”
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Transient cerebral white matter lesions in a patient with connexin 32 missense mutation by SCHELHAAS, H. J, VAN ENGELEN, B. G. M, GABREËLS-FESTEN, A. A. W. M, HAGEMAN, G, VLIEGEN, J. H. R, VAN DER KNAAP, M. S, ZWARTS, M. J

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N.P.1 04 Neuropathy in degenerative early-onset cerebellar ataxias by Bos, M.M., Schelhaas, H.J., van de Warrenburg, B.P.C., Zwarts, M.J., Kremer, H.P.H.

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Demyelinating polyneuropathy in Leber hereditary optic neuropathy by Gilhuis, H.J., Schelhaas, H.J., Cruysberg, J.R.M., Zwarts, M.J.

“…We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his…”
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Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia by SCHELHAAS, H. J, IPPEL, P. F, HAGEMAN, G, SINKE, R. J, VAN DER LAAN, E. N, BEEMER, F. A

“…The autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders characterised by progressive cerebellar dysfunction…”
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Cerebellar ataxia, dementia, pyramidal signs, cortical cataract of the posterior pole and a raised IgG index in a patient with a sporadic form of olivopontocerebellar atrophy by Schelhaas, H.J., Hageman, G., Post, J.G.

“…Middle-aged patients who initially present with a progressive cerebellar ataxia, in the absence of a known familial pattern are often referred to under the…”
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Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member by Schelhaas, H.J, Hulst, M.v.d, Ippel, E, Prevo, R.L, Hageman, G

“…Early onset cerebellar ataxia with retained tendon reflexes (EOCA) is a clinical syndrome characterised by progressive cerebellar ataxia with an onset before…”
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MRI locates a posterior fossa aneurysm in the fourth ventricle by Schelhaas, H.J, Brouwers, P.J.A.M, van der AA, H.E, Prevo, R.L

“…We report a rare case of a ruptured aneurysm of the choroidal branch of the left posterior inferior cerebellar artery (PICA) located in the fourth ventricle…”
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