Search Results - "SCHELHAAS, H. J"

Relation between muscle fiber conduction velocity and fiber size in neuromuscular disorders by Blijham, P. J, ter Laak, H. J, Schelhaas, H. J, van Engelen, B. G. M, Stegeman, D. F, Zwarts, M. J

“…1 Department of Clinical Neurophysiology, Institute of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, and Interuniversity Institute for…”
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Prognostic value of decreased tongue strength on survival time in patients with amyotrophic lateral sclerosis by Weikamp, J. G., Schelhaas, H. J., Hendriks, J. C. M., de Swart, B. J. M., Geurts, A. C. H.

“…Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia occur,…”
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Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations by de Bot, S T, van den Elzen, R T M, Mensenkamp, A R, Schelhaas, H J, Willemsen, M A A P, Knoers, N V A M, Kremer, H P H, van de Warrenburg, B P C, Scheffer, H

“…BackgroundIn the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently…”
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Botulinum toxin-A injections vs radiotherapy for drooling in ALS by Weikamp, J. G., Schinagl, D. A. X., Verstappen, C. C. P., Schelhaas, H. J., de Swart, B. J. M., Kalf, J. G.

“…Objectives Botulinum neurotoxin (BoNT) injections in the salivary glands and radiotherapy (RT) on these glands are commonly used to alleviate severe drooling…”
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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? by ORNGREEN, M. C, SCHELHAAS, H. J, JEPPESEN, T. D, AKMAN, H. O, WEVERS, R. A, ANDERSEN, S. T, TER LAAK, H. J, VAN DIGGELEN, O. P, DIMAURO, S, VISSING, J

“…It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism,…”
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Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites by Gierga, K., Schelhaas, H. J., Brunt, E. R., Seidel, K., Scherzed, W., Egensperger, R., De Vos, R. A. I., Den Dunnen, W., Ippel, P. F., Petrasch-Parwez, E., Deller, T., Schöls, L., Rüb, U.

“…Aims: Spinocerebellar ataxia type 6 (SCA6) is a late onset autosomal dominantly inherited ataxic disorder, which belongs to the group of CAG repeat, or…”
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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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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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Dissociated small hand muscle atrophy in aging: the 'senile hand' is a split hand by Voermans, N. C., Schelhaas, H. J., Munneke, M., Zwarts, M. J.

“…The term ‘split hand’ refers to a pattern of dissociated atrophy of hand muscles and was first described in ALS. We hypothesize that this phenomenon also…”
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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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The split hand phenomenon: Evidence of a spinal origin by SCHELHAAS, H. J, VAN DE WARRENBURG, B. P. C, KREMER, H. P. H, ZWARTS, M. J

“…The clinical phenomenon of a split hand, dominant muscle atrophy in the thenar as compared to the hypothenar complex, has been used to support the theory of…”
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Population based epidemiology of amyotrophic lateral sclerosis using capture–recapture methodology by Huisman, Mark H B, de Jong, Sonja W, van Doormaal, Perry T C, Weinreich, Stephanie S, Schelhaas, H Jurgen, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…BackgroundVariation in the incidence rate in epidemiological studies on amyotrophic lateral sclerosis (ALS) may be due to a small population size and under…”
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Primary respiratory failure in inclusion body myositis by VOERMANS, N. C, VANEKER, M, HENGSTMAN, G. J. D, TER LAAK, H. J, ZIMMERMAN, C, SCHELHAAS, H. J, ZWARTS, M. J

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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.

“…Background:  Charcot–Marie–Tooth disease type 1A (CMT1A) is known as a demyelinating hereditary neuropathy. Secondary axonal dysfunction is the most important…”
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Hereditary spastic paraplegia caused by a mutation in the VCP gene by de Bot, Susanne T., Schelhaas, Helenius J., Kamsteeg, Erik-Jan, van de Warrenburg, Bart P.C.

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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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Treatment-responsive pudendal dysfunction in chronic inflammatory demyelinating polyneuropathy by BUSSEMAKER, L, SCHELHAAS, H. J, OVEREEM, S, HOPMAN, W. P. M, ZWARTS, M. J

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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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Classification of intellectual disability according to domains of adaptive functioning and between‐domains discrepancy in adults with epilepsy by Ool, J. S., Snoeijen‐Schouwenaars, F. M., Tan, I. Y., Schelhaas, H. J., Aldenkamp, A. P., Hendriksen, J. G. M.

“…Background In the Diagnostic and Statistical Manual of Mental Disorders–Fifth edition (DSM‐5), the diagnostic criteria of intellectual disability (ID) include…”
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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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