Search Results - "Busch, H F"

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement by van der Kooi, A J, Ledderhof, T M, de Voogt, W G, Res, C J, Bouwsma, G, Troost, D, Busch, H F, Becker, A E, de Visser, M

“…Sixty-five members of three families with limb girdle muscular dystrophy (LGMD) underwent neurological, cardiological, and ancillary investigations…”
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The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands by van der Kooi, A. J., Barth, P. G., Busch, H. F. M., de Haan, R., Ginjaar, H. B., van Essen, A. J., van Hooff, L. J. M. A., Höweler, C. J., Jennekens, F. G. I., Jongen, P., Oosterhuis, H. J. G. H., Padberg, G. W. A. M., Spaans, F., Wintzen, A. R., Wokke, J. H. J., Bakker, E., van Ommen, G. J. B., Bolhuis, P. A., de Visser, M.

“…Summary A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and…”
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Anticipation in myotonic dystrophy: fact or fiction? by Höweler, C J, Busch, H F, Geraedts, J P, Niermeijer, M F, Staal, A

“…In 1918 Fleischer reported that after transmission from one generation to the next, myotonic dystrophy has an earlier onset and is more severe. The hypothesis…”
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Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy by GINJAAR, H. B, VAN DER KOOI, A. J, JEANPIERRE, M, BOLHUIS, P. A, MOORMAN, A. F. M, DE VISSER, M, BAKKER, E, OMMEN, G. J. B. V, CEELIE, H, KNEPPERS, A. L. J, VAN MEEGEN, M, BARTH, P. G, BUSCH, H. F. M, WOKKE, J. H. J, ANDERSON, L. V. B, BÖNNEMANN, C. G

“…Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy…”
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The heart in limb girdle muscular dystrophy by van der Kooi, A J, de Voogt, W G, Barth, P G, Busch, H F M, Jennekens, F G I, Jongen, P J H, de Visser, M

“…Objective To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in…”
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Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy by VAN DER KOOI, A. J, BONNE, G, SCHWARTZ, K, BUSCH, H. F. M, DE VISSER, M, EYMARD, B, DUBOC, D, TALIM, B, VAN DER VALK, M, REISS, P, RICHARD, P, DEMAY, L, MERLINI, L

“…Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated…”
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Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths by Gabreëls-Festen, A A, Joosten, E M, Gabreëls, F J, Stegeman, D F, Vos, A J, Busch, H F

“…Six patients (5 index cases and 1 sib) with a congenital motor and sensory neuropathy are described. The clinical, genetic and electrophysiological features…”
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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease by ODERMATT, A, TASCHNER, P. E. M, KHANNA, V. K, BUSCH, H. F. M, KARPATI, G, JABLECKI, C. K, BREUNING, M. H, MACLENNAN, D. H

“…Brody disease is a rare inherited disorder of skeletal muscle function. Symptoms include exercise-induced impairment of skeletal muscle relaxation, stiffness…”
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Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies by TRIJBELS, J. M. F, SCHOLTE, H. R, RUITENBEEK, W, SENGERS, R. C. A, JANSSEN, A. J. M, BUSCH, H. F. M

“…Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed…”
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Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands by VAN ESSEN, A. J, BUSCH, H. F. M, TE MEERMAN, G. J, TEN KATE, L. P

“…Mutations causing Duchenne muscular dystrophy (DMD) have a short survival. Therefore, birth and population prevalence are maintained by new mutations. The…”
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Chronic inflammatory demyelinating polyneuropathy. Conduction failure before and during immunoglobulin or plasma therapy by van der Meché, F G, Vermeulen, M, Busch, H F

“…An earlier study has shown that patients with chronic inflammatory demyelinating polyneuropathy may improve after the infusion of fresh frozen plasma or high…”
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Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating polyneuropathy: a double blind, placebo controlled study by Vermeulen, M, van Doorn, P A, Brand, A, Strengers, P F, Jennekens, F G, Busch, H F

“…Patients with a clinical diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) were randomised in a double-blind, placebo-controlled…”
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Vitamin‐responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis by Bakker, H. D., Scholte, H. R., Jeneson, J. A. L., Busch, H. F. M., Abeling, N. G. G. M., Gennip, A. H.

“…Summary An 11‐year‐old gril with exercise intolerance, fatiguability from early childhood, had high blood lactate levels. Histochemistry showed increased…”
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Miyoshi-type distal muscular dystrophy : Clinical spectrum in 24 Dutch patients by LINSSEN, W. H. J. P, NOTERMANS, N. C, VAN DER GRAAF, Y, WOKKE, J. H. J, VAN DOORN, P. A, HÖWELER, C. J, BUSCH, H. F. M, DE JAGER, A. E. J, DE VISSER, M

“…Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with…”
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Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells by VAN DER PLOEG, A. T, BOLHUIS, P. A, WOLTERMANN, R. A, VISSER, J. W, LOONEN, M. C. B, BUSCH, H. F. M, REUSER, A. J. J

“…Impairment of skeletal muscle function is the common feature of distinct clinical forms of glycogenosis type II. In the present study, muscle cultures from…”
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Daytime sleep in myotonic dystrophy is not caused by sleep apnoea by van der Meché, F G, Bogaard, J M, van der Sluys, J C, Schimsheimer, R J, Ververs, C C, Busch, H F

“…Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of…”
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Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil by Benders, A A, Veerkamp, J H, Oosterhof, A, Jongen, P J, Bindels, R J, Smit, L M, Busch, H F, Wevers, R A

“…Brody's disease, i.e., sarcoplasmic reticulum (SR) Ca(2+)-dependent Mg(2+)-ATPase (Ca(2+)-ATPase) deficiency, is a rare inherited disorder of skeletal muscle…”
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Pleocore disease: multi-minicore disease and focal loss of cross striations by MARTIN, J. J, BRUYLAND, M, BUSCH, H. F. M, FARRIAUX, J. P, KRIVOSIC, I, CEUTERICK, C

“…We report clinical and morphological data on seven patients with a congenital myopathy as well as data concerning five parents. Classical myopathies such as…”
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Metabolic and ventilatory responses to exercise in patients with a deficient O2 utilization by a mitochondrial myopathy by Bogaard, J M, Busch, H F, Arts, W F, Heijsteeg, M, Stam, H, Versprille, A

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Difficulties in assessing biochemical properties of abnormal muscle mitochondria by Scholte, H. R., Luyt‐Houwen, I. E. M., Busch, H. F. M.

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