Search Results - "Fock, Jm"

A Dutch guideline for the treatment of scoliosis in neuromuscular disorders by Mullender, Mg, Blom, Na, De Kleuver, M, Fock, Jm, Hitters, Wmgc, Horemans, Amc, Kalkman, Cj, Pruijs, Jeh, Timmer, Rr, Titarsolej, Pj, Van Haasteren, Nc, Jager, Mj Van Tol-de, Van Vught, Aj, Van Royen, Bj

“…Children with neuromuscular disorders with a progressive muscle weakness such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy frequently develop a…”
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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N‐related myopathies by Bachmann, Christoph, Noreen, Faiza, Voermans, Nicol C., Schär, Primo L., Vissing, John, Fock, Johanna M., Bulk, Saskia, Kusters, Benno, Moore, Steven A., Beggs, Alan H., Mathews, Katherine D., Meyer, Megan, Genetti, Casie A., Meola, Giovanni, Cardani, Rosanna, Mathews, Emma, Jungbluth, Heinz, Muntoni, Francesco, Zorzato, Francesco, Treves, Susan

“…Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous…”
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Prognostic significance of amplitude-integrated EEG during the first 72 hours after birth in severely asphyxiated neonates by TER HORST, Hendrik J, SOMMER, Constanze, BERGMAN, Klasien A, FOCK, Johanna M, VAN WEERDEN, Tiemen W, BOS, Arend F

“…Amplitude-integrated EEG (aEEG) is used to select patients for neuroprotective therapy after perinatal asphyxia because of its prognostic accuracy within…”
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Kinematic characteristics of reaching movements in preterm children with cerebral palsy by VAN DER HEIDE, Jolanda C, FOCK, Johanna M, OTTEN, Bert, STREMMELAAR, Elisabeth, HADDERS-ALGRA, Mijna

“…Kinematic characteristics of reaching movements of the dominant arm were assessed in 51 sitting preterm children who were aged 2-11 y and had cerebral palsy…”
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Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry by Beenakker, E.A.C, van der Hoeven, J.H, Fock, J.M, Maurits, N.M

“…Since muscle force and functional ability are not related linearly; maximum force can be reduced while functional ability is still maintained. For diagnostic…”
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Postural control during reaching in preterm children with cerebral palsy by van der Heide, Jolanda C, Begeer, Co, Fock, Johanna M, Otten, Bert, Stremmelaar, Elisabeth, van Eykern, Leo A, Hadders-Algra, Mijna

“…Postural control during reaching with the dominant arm was assessed in 58 preterm children with cerebral palsy (CP) aged 2 to 11 years, comprising 34 with…”
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Muscle ultrasound in children: normal values and application to neuromuscular disorders by Maurits, Natalia Maria, Beenakker, Ernesto Alexander Christiaan, van Schaik, David Eric Christiaan, Fock, Johanna Maria, van der Hoeven, Johannes Harmen

“…In this study, 105 healthy children (45 to 156 months old, 57 girls) were examined using ultrasound (US) imaging to obtain reference values of muscle…”
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Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients by Beenakker, Ernesto A.C., Maurits, Natalia M., Fock, Johanna M., Brouwer, Oebele F., van der Hoeven, Johannes H.

“…Neuromuscular disorders are characterised by progressive muscle weakness, which in time causes functional impairment. To quantify the extent of disease…”
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome by Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.

“…Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve…”
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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect by RUMP, P, LEMMINK, H. H, VERSCHUUREN-BEMELMANS, C. C, GROOTSCHOLTEN, P. M, FOCK, J. M, HAYFLICK, S. J, WESTAWAY, S. K, VOS, Y. J, VAN ESSEN, A. J

“…Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as…”
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Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial by Beenakker, Ernesto A C, Fock, Johanna M, Van Tol, Marja J, Maurits, Natalia M, Koopman, Hendrik M, Brouwer, Oebele F, Van der Hoeven, Johannes H

“…Prednisone treatment is used to prolong ambulation in patients with Duchenne muscular dystrophy (DMD). However, since severe adverse effects often accompany…”
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Quantitative assessment of calf circumference in Duchenne muscular dystrophy patients by Beenakker, E.A.C., de Vries, J., Fock, J.M., van Tol, M., Brouwer, O.F., Maurits, N.M., van der Hoeven, J.H.

“…Duchenne muscular dystrophy is clinically characterised by progressive muscle weakness and a gradual increase in the size of some affected muscles, especially…”
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Recurrent astrocytoma in a child: a report of cytogenetics and TP53 gene mutation screening by Dam, A, Fock, J M, Hayes, V M, Molenaar, W M, van den Berg, E

“…An 8-year-old girl presented with a cerebral tumor and 3 recurrences within 15 months. The primary tumor was a low-grade astrocytoma, but the recurrences…”
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Metachromatic leukodystrophy and coincidental finding of papillomatosis of the gallbladder. A case report by Fock, J M, Begeer, J H, Prins, T R

“…In this case report we describe the coincidental finding of polyps in the gallbladder by ultrasound investigation in a six-year-old girl, known to have…”
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Predictive value of clinical evaluation in the follow-up of children with a brain tumor by de Graaf, Nanko, Hew, Joffre M., Fock, Johanna M., Kamps, Willem A., de Graaf, Siebold S.N.

“…Background During follow‐up of children with a brain tumor, traditionally surveillance‐imaging studies are done in addition to clinical evaluations. The…”
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