Search Results - "Voermans, Nicol"

A disease-specific therapy in facioscapulohumeral muscular dystrophy by Voermans, Nicol, Vissing, John

“…[...]DUX4-driven gene expression differed by a factor of more than 1000 among patients at baseline, a large variability that was unexpected, but it is in line…”
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Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look by Conte, Federica, van Buuringen, Nicole, Voermans, Nicol C., Lefeber, Dirk J.

“…Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a…”
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Gene therapy for X-linked myotubular myopathy: the challenges by Voermans, Nicol C, Ferreiro, Ana, Aartsema-Rus, Annemieke, Jungbluth, Heinz

“…[...]promising outcomes in relevant animal models can raise false expectations because the model might not fully reflect the human phenotype. [...]all…”
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Congenital myopathies: not only a paediatric topic by Jungbluth, Heinz, Voermans, Nicol C

“…This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and nemaline…”
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Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing by Voermans, Nicol C., Bhai, Salman, Laforet, Pascal, Vissing, John

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Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition by Schirris, Tom J.J., Renkema, G. Herma, Ritschel, Tina, Voermans, Nicol C., Bilos, Albert, van Engelen, Baziel G.M., Brandt, Ulrich, Koopman, Werner J.H., Beyrath, Julien D., Rodenburg, Richard J., Willems, Peter H.G.M., Smeitink, Jan A.M., Russel, Frans G.M.

“…Cholesterol-lowering statins effectively reduce the risk of major cardiovascular events. Myopathy is the most important adverse effect, but its underlying…”
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Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease: results from a randomized, placebo-controlled, double-blind, cross-over study by Løkken, Nicoline, Khawajazada, Tahmina, Slipsager, Anna, Voermans, Nicol C, Vissing, John

“…It is well established that oral sucrose ingested shortly before exercise improves early exercise tolerance in individuals with McArdle disease. This by…”
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Neurological and spinal manifestations of the Ehlers–Danlos syndromes by Henderson, Fraser C., Austin, Claudiu, Benzel, Edward, Bolognese, Paolo, Ellenbogen, Richard, Francomano, Clair A., Ireton, Candace, Klinge, Petra, Koby, Myles, Long, Donlin, Patel, Sunil, Singman, Eric L., Voermans, Nicol C.

“…The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility,…”
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Child Neurology: Maternal Transmission of Congenital Myotonic Dystrophy Type 2: Case Report by Tieleman, Alide A., Damen, Manon J., Verrips, Aad, Roelofs, Monique, Kamsteeg, Erik-Jan, Voermans, Nicol C.

“…Congenital manifestations in Myotonic Dystrophy type 2 (DM2) point to anticipation and have only rarely been described. We report a three-generation family…”
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Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia–Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability by Ibarra Moreno, Carlos A., Kraeva, Natalia, Zvaritch, Elena, Jungbluth, Heinz, Voermans, Nicol C., Riazi, Sheila

“…Patients susceptible to malignant hyperthermia (MH) may experience disabling manifestations of an unspecified myopathy outside the context of anesthesia,…”
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“RYR1 and the cerebellum”: scientific commentary on “Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium ‘Leak’ in Tremor Pathophysiology” by Jungbluth, Heinz, Famili, Dennis T., Helmich, Rick C., Previtali, Stefano, Voermans, Nicol C.

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Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers by Mul, Karlien, Horlings, Corinne G. C., Vincenten, Sanne C. C., Voermans, Nicol C., van Engelen, Baziel G. M., van Alfen, Nens

“…Objective To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of…”
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Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease by Løkken, Nicoline, Voermans, Nicol C, Andersen, Linda K, Karazi, Walaa, Reason, Stacey L, Zweers, Heidi, Wilms, Gustav, Santalla, Alfredo, Susanibar, Edward, Lucia, Alejandro, Vissing, John

“…The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle…”
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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers by van den Heuvel, Anita, Lassche, Saskia, Mul, Karlien, Greco, Anna, San León Granado, David, Heerschap, Arend, Küsters, Benno, Tapscott, Stephen J., Voermans, Nicol C., van Engelen, Baziel G. M., van der Maarel, Silvère M.

“…With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly…”
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Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment by Voermans, Nicol C., MD, Knoop, Hans, PhD, Bleijenberg, Gijs, PhD, van Engelen, Baziel G., MD, PhD

“…Abstract Context The Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by…”
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Is Fatigue a Disease-Specific or Generic Symptom in Chronic Medical Conditions? by Menting, Juliane, Tack, Cees J., Bleijenberg, Gijs, Donders, Rogier, Droogleever Fortuyn, Hal A., Fransen, Jaap, Goedendorp, Martine M., Kalkman, Joke S., Strik-Albers, Riet, van Alfen, Nens, van der Werf, Sieberen P., Voermans, Nicol C., van Engelen, Baziel G., Knoop, Hans

“…Objective: Severe fatigue is highly prevalent in various chronic diseases. Disease-specific fatigue models have been developed, but it is possible that…”
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274th ENMC international workshop: recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19–21 January 2024 by Voermans, Nicol C., Dittrich, Anne T.M., Liguori, Sara, Panicucci, Chiara, Moretti, Antimo, Weber, David R., Ward, Leanne M., de Groot, Ingrid, Guglieri, Michela, Wood, Claire, Liguori, Sara, Iolascon, Giovanni, Kostera-Pruszczyk, Anna, Erasmus, Corrie E., de Visser, Marianne, Ward, Leanne, Weber, David, Panicucci, Chiara, Schlüter, Silke, Crabtree, Nicola, Fattore, Andrea Del, Claeys, Kristl G., Dittrich, Anne T.M., Kroneman, Madelon, Wong, Sze Choong, Voermans, Nicol, Moretti, Antimo

“…•Bone strength is impaired in most NMDs.•Bone strength needs to be addressed and treated in NMDs.•Time to initiate bone health monitoring, indication and type…”
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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies by Kushnir, Alexander, Todd, Joshua J., Witherspoon, Jessica W., Yuan, Qi, Reiken, Steven, Lin, Harvey, Munce, Ross H., Wajsberg, Benjamin, Melville, Zephan, Clarke, Oliver B., Wedderburn-Pugh, Kaylee, Wronska, Anetta, Razaqyar, Muslima S., Chrismer, Irene C., Shelton, Monique O., Mankodi, Ami, Grunseich, Christopher, Tarnopolsky, Mark A., Tanji, Kurenai, Hirano, Michio, Riazi, Sheila, Kraeva, Natalia, Voermans, Nicol C., Gruber, Angela, Allen, Carolyn, Meilleur, Katherine G., Marks, Andrew R.

“…RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1…”
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The socioeconomic burden of facioscapulohumeral muscular dystrophy by Blokhuis, Anna M., Deenen, Johanna C. W., Voermans, Nicol C., van Engelen, Baziel G. M., Kievit, Wietske, Groothuis, Jan T.

“…Background Promising genetic therapies are being investigated in facioscapulohumeral muscular dystrophy (FSHD). However, the current cost of illness is largely…”
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The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up by Vincenten, Sanne C.C., Voermans, Nicol C., Cameron, Donnie, van Engelen, Baziel G.M., van Alfen, Nens, Mul, Karlien

“…•Muscle ultrasound outcome may predict an acceleration of the facioscapulohumeral muscular dystrophy (FSHD) disease progression.•Current muscle MRI protocols…”
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