Search Results - "Voermans, N.C"

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis by Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H

“…Abstract Mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene are a common cause of neuromuscular disease, ranging from various congenital…”
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Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients by Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B.G., Hamel, B., Schalkwijk, J., Loeys, B., Maugeri, A., Voermans, N.C.

“…The tenascin‐X (TNX) deficient type Ehlers–Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists…”
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PGM1 deficiency: substrate use during exercise and effect of treatment with galactose by Voermans, N.C, Preisler, N, Madsen, K.L, Janssen, M.C.H, Kusters, B, Abu Bakar, N, Conte, F, Lamberti, V.M.L, Nusman, F, van Engelen, B.G, van Scherpenzeel, M, Vissing, J, Lefeber, D.J

“…Highlights • PGM1 deficiency is associated with severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity. • Oral galactose…”
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Clinical and molecular overlap between myopathies and inherited connective tissue diseases by Voermans, N.C, Bönnemann, C.G, Huijing, P.A, Hamel, B.C, van Kuppevelt, T.H, de Haan, A, Schalkwijk, J, van Engelen, B.G, Jenniskens, G.J

“…Abstract This review presents an overview of myopathies and inherited connective tissue disorders that are caused by defects in or deficiencies of molecules…”
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Characterization of sarcoplasmic reticulum ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy by Guglielmi, V, Oosterhof, A, Voermans, N.C, Cardani, R, Molenaar, J.P, van Kuppevelt, T.H, Meola, G, van Engelen, B.G, Tomelleri, G, Vattemi, G

“…Highlights • SERCA impairment has been suggested to occur in DM and in hypothyroid myopathy • SERCA activity and expression of SERCA1 and SERCA2 are not…”
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Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study by Voermans, N.C, Knoop, H, Bleijenberg, G, van Engelen, B.G

“…Abstract Objectives Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by…”
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The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue by te Riele, M.G.E, Schreuder, T.H.A, van Alfen, N, Bergman, M, Pillen, S, Smits, B.W, van der Wilt, G.J, Groenewoud, H, Voermans, N.C, van Engelen, B.G.M

“…Highlights • This study guides ancillary investigations in patients with myalgia. • We identified clinical clues independently indicative of myopathy. • We…”
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Assessment of postural asymmetry in mild to moderate Parkinson's disease by Geurts, A.C.H, Boonstra, T.A, Voermans, N.C, Diender, M.G, Weerdesteyn, V, Bloem, B.R

“…Abstract Asymmetry of symptoms of Parkinson's disease is clinically most evident for appendicular impairments. For axial impairments such as freezing of gait,…”
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G.P.16 by Lassche, S, Janssen, B.H, Voermans, N.C, Futterer, J.J, van Engelen, B.G.M

“…Muscle biopsy remains an important procedure in the diagnosis and research of muscle disorders. Traditional methods such as open or Bergström needle biopsy can…”
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Balance control in patients with distal versus proximal muscle weakness by Horlings, C.G.C, Küng, U.M, van Engelen, B.G.M, Voermans, N.C, Hengstman, G.J.D, van der Kooi, A.J, Bloem, B.R, Allum, J.H.J

“…Abstract Muscle weakness is consistently associated with falls in the elderly people, typically when present along with other risk factors. However, it remains…”
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EM.P.3.08 Matrix matters in man and mouse by Voermans, N.C, van Engelen, B.G

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G.P.1 by Straathof, C.S.M, van Heusden, D, Ippel, P.F, Post, J.G, Voermans, N.C, de Visser, M, Brusse, E, van den Bergen, J.C, van der Kooi, A.J, Verschuuren, J.J.G, Ginjaar, H.B

“…The phenotype of Becker muscular dystrophy (BMD) is highly variable, and thus the disorder might be underdiagnosed. In this study we have reviewed the…”
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Congenital myopathy with focal loss of cross-striations revisited by Voermans, N.C, Jungbluth, H, Aronica, E, Monnier, N, Lunardi, J, Swash, M, de Visser, M

“…Abstract In 1977 Wijngaarden et al. reported a Dutch family with a congenital myopathy characterized by external ophthalmoplegia and a remarkable histological…”
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G.O.28 by Voermans, N.C, Benveniste, O, Minnema, M, Lokhorst, H, Lammens, M, Meersseman, W, Delforge, M, Kuntzer, T, Novy, J, Pabst, T, Bouhour, F, Romero, N, Leblond, V, Van den Bergh, P, Vekemans, M.C, Engelen, B, Eymard, B

“…Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. Limb-girdle and axial weakness and atrophy predominate…”
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Histological abnormalities induced by the electromyography needle by Voermans, N.C, Sie, L.T.L, van Alfen, N, van Engelen, B.G, Küsters, B

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Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) by Voermans, N.C, van Engelen, B.G

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Oculopharyngeal muscular dystrophy with frontotemporal dementia by van der Sluijs, B.M, te Riele, M.G.E, Hammink, J.K.N, Ramdhani-Joosten, A.A.J, Snijders, A.H, Raz, V, van Engelen, B.G.M, Voermans, N.C

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Coffee and muscle cramps by Voermans, N.C, van Engelen, B.G

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Brody syndrome: A clinically heterogeneous entity distinct from Brody disease by Voermans, N.C, Laan, A.E, Oosterhof, A, van Kuppevelt, T.H, Drost, G, Lammens, M, Kamsteeg, E.J, Scotton, C, Gualandi, F, Guglielmi, V, van den Heuvel, L, Vattemi, G, van Engelen, B.G

“…Abstract Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca2+ ATPase (SERCA)1 activity caused by mutations in ATP2A1 , which…”
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Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients by Voermans, N.C, Altenburg, T.M, Hamel, B.C, de Haan, A, van Engelen, B.G

“…Abstract The Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders. Skeletal muscle features belong to the clinical…”
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