Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Johanna M. Fock"'
Autor:
Judith M. Lionarons, Imelda J. M. de Groot, Johanna M. Fock, Sylvia Klinkenberg, Desiree M. J. Vrijens, Anita C. E. Vreugdenhil, Evita G. Medici-van den Herik, Inge Cuppen, Bregje Jaeger, Erik H. Niks, Rinske Hoogerhuis, Nicky Platte-van Attekum, Frans J. M. Feron, Catharina G. Faber, Jos G. M. Hendriksen, Johan S. H. Vles
Publikováno v:
Life, Vol 11, Iss 8, p 772 (2021)
Introduction: Lower urinary tract symptoms (LUTS) and gastrointestinal (GI) problems are common in Duchenne muscular dystrophy (DMD), but not systematically assessed in regular care. We aimed to determine the prevalence of bladder and bowel dysfuncti
Externí odkaz:
https://doaj.org/article/c7e45e695c26411fb4585e2c4dcd430f
Autor:
Fleur Vansenne, Johanna M. Fock, Irene Stolte-Dijkstra, Linda C. Meiners, Marie-Jose H. van den Boogaard, Bregje Jaeger, Ludolf Boven, Yvonne J. Vos, Richard J. Sinke, Dineke S. Verbeek
Publikováno v:
European Journal of Paediatric Neurology, 41, 91-98. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 41, 91-98. W.B. Saunders Ltd
European journal of paediatric neurology : EJPN, 41, 91-98. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 41, 91-98. W.B. Saunders Ltd
European journal of paediatric neurology : EJPN, 41, 91-98. W.B. Saunders Ltd
Vici syndrome (OMIM 242840) is a very rare autosomal recessive multisystem disorder first described in 1988. In 2013, bi-allelic loss-of-function mutations in EPG5 were reported to cause Vici syndrome. Five principal diagnostic features of Vici syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5f2fe1d451508fe268f3eb1e9c42f5a
https://research.rug.nl/en/publications/0dc451ce-a839-4ccb-a9ea-a7b527eba443
https://research.rug.nl/en/publications/0dc451ce-a839-4ccb-a9ea-a7b527eba443
Autor:
Inge Cuppen, Jos G.M. Hendriksen, Johanna M. Fock, Bregje Jaeger, Anita Vreugdenhil, Erik H. Niks, Nicky Platte-van Attekum, Desiree Vrijens, Judith M. Lionarons, Catharina G. Faber, Johan S.H. Vles, Evita G. Medici-van den Herik, Frans J. M. Feron, Sylvia Klinkenberg, Rinske Hoogerhuis, Imelda J. M. de Groot
Publikováno v:
Life, 11(8):772. MDPI AG
Life
Life (Basel, Switzerland), 11(8):772. Multidisciplinary Digital Publishing Institute (MDPI)
Life, 11(8):772. MDPI Multidisciplinary Digital Publishing Institute
Life, Vol 11, Iss 772, p 772 (2021)
Life, 11(8). MDPI
Life, 11
Volume 11
Issue 8
Life, 11(8):772. Multidisciplinary Digital Publishing Institute (MDPI)
Lionarons, J M, de Groot, I J M, Fock, J M, Klinkenberg, S, Vrijens, D M J, Vreugdenhil, A C E, Medici-Van Den Herik, E G, Cuppen, I, Jaeger, B, Niks, E H, Hoogerhuis, R, Platte-Van Attekum, N, Feron, F J M, Faber, C G, Hendriksen, J G M & Vles, J S H 2021, ' Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire ', Life, vol. 11, no. 8, 772 . https://doi.org/10.3390/life11080772
Life, 11, 8
Life
Life (Basel, Switzerland), 11(8):772. Multidisciplinary Digital Publishing Institute (MDPI)
Life, 11(8):772. MDPI Multidisciplinary Digital Publishing Institute
Life, Vol 11, Iss 772, p 772 (2021)
Life, 11(8). MDPI
Life, 11
Volume 11
Issue 8
Life, 11(8):772. Multidisciplinary Digital Publishing Institute (MDPI)
Lionarons, J M, de Groot, I J M, Fock, J M, Klinkenberg, S, Vrijens, D M J, Vreugdenhil, A C E, Medici-Van Den Herik, E G, Cuppen, I, Jaeger, B, Niks, E H, Hoogerhuis, R, Platte-Van Attekum, N, Feron, F J M, Faber, C G, Hendriksen, J G M & Vles, J S H 2021, ' Prevalence of bladder and bowel dysfunction in duchenne muscular dystrophy using the childhood bladder and bowel dysfunction questionnaire ', Life, vol. 11, no. 8, 772 . https://doi.org/10.3390/life11080772
Life, 11, 8
Introduction: Lower urinary tract symptoms (LUTS) and gastrointestinal (GI) problems are common in Duchenne muscular dystrophy (DMD), but not systematically assessed in regular care. We aimed to determine the prevalence of bladder and bowel dysfuncti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bce5b0566e0fd10a077a7bd35bb9298
https://research.rug.nl/en/publications/1ab02b8e-5d27-4b12-bb7f-368f0bf02eee
https://research.rug.nl/en/publications/1ab02b8e-5d27-4b12-bb7f-368f0bf02eee
Autor:
C. G. Faber, Jan B. M. Kuks, W. S. Frankhuizen, H.B. Ginjaar, A. J. van der Kooi, W. H. J. P. Linssen, Chiara S. M. Straathof, M. de Visser, L. ten Dam, Dineke Westra, Johanna M. Fock, W.L. van der Pol, Nicol C. Voermans, Esther Brusse, I.F.M. de Coo, Jessica E. Hoogendijk, Aad Verrips, Erik H. Niks
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a68271c42a6fbaffe7d038370bc7ae3
https://doi.org/10.1111/cge.13544/v2/response1
https://doi.org/10.1111/cge.13544/v2/response1
Autor:
Primo Schär, Nicol C. Voermans, Francesco Zorzato, Johanna M. Fock, Casie A. Genetti, Faiza Noreen, John Vissing, Giovanni Meola, Heinz Jungbluth, Alan H. Beggs, Francesco Muntoni, Susan Treves, Rosanna Cardani, Steven A. Moore, Saskia Bulk, Benno Küsters, Megan Meyer, Emma Mathews, Katherine D. Mathews, Christoph Bachmann
Publikováno v:
Hum Mutat
Human Mutation, 40, 962-974
Human Mutation, 40, 7, pp. 962-974
Human Mutation, 40, 962-974
Human Mutation, 40, 7, pp. 962-974
Congenital myopathies are early onset, slowly progressive neuromuscular disorders of variable severity. They are genetically and phenotypically heterogeneous and caused by pathogenic variants in several genes. Multi-minicore Disease, one of the more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65da84c3c6ca151cb1e8f7622e061138
http://hdl.handle.net/11392/2429546
http://hdl.handle.net/11392/2429546
Autor:
Marjo S. van der Knaap, Terry G J Derks, Nicole I. Wolf, Gajja S. Salomons, Richard J. Rodenburg, Daphne M. van Beek, Johanna M. Fock, Jolanda H. Schieving, Quinten Waisfisz, Patrick Rump, Petra J. W. Pouwels
Publikováno v:
Annals of Neurology. 76:134-139
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain com
Autor:
Jan J.G.M. Verschuuren, B.H.A. Wokke, M. E. Van Der Tol, I.J.M. de Groot, Peter J. Wijkstra, Chiara S. M. Straathof, Erik H. Niks, Marianne Zijnen, M.E.B. Rijlaarsdam, Nicole A. M. Cobben, J.C. van den Bergen, A. M. C. Horemans, Johanna M. Fock, Elizabeth Vroom, H.B. Ginjaar, I.F.M. de Coo, R.F. Pangalila, A. J. van Essen, Mike J. Kampelmacher
Publikováno v:
Journal of Neuromuscular Diseases, 1(1), 99-109
Journal of Neuromuscular Diseases, 1, pp. 99-109
Journal of Neuromuscular Diseases, 1, 99-109
Journal of Neuromuscular Diseases, 1, pp. 99-109
Journal of Neuromuscular Diseases, 1, 99-109
Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ven
Publikováno v:
European Journal of Paediatric Neurology, 21(2), 344-349. ELSEVIER SCI LTD
Background: Annually 14.000 children with traumatic brain injury (TBI) are admitted to the Emergency Depathuent (ED) in the Netherlands. Presentation varies and a specific entity comprises the juvenile head trauma syndrome (JHTS) with secondary deter
Autor:
Gajja S. Salomons, Johanna M. Fock, Femke C. C. Klouwer, Marianna Bugiani, Sietske H. Kevelam, Marjo S. van der Knaap
Publikováno v:
Kevelam, S H, Klouwer, F C C, Fock, J M, Salomons, G S, Bugiani, M & van der Knaap, M S 2016, ' Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL ', Neuropediatrics, vol. 47, no. 1, pp. 64-67 . https://doi.org/10.1055/s-0035-1568987
Neuropediatrics, 47(1), 64-67. GEORG THIEME VERLAG KG
Neuropediatrics, 47(1), 64-67. Hippokrates Verlag GmbH
Neuropediatrics, 47(1), 64-67. GEORG THIEME VERLAG KG
Neuropediatrics, 47(1), 64-67. Hippokrates Verlag GmbH
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be29870f3d5bf2e485c010470b73c762
https://research.vumc.nl/en/publications/18d20b73-f09c-4be1-bed0-730fa5cd1c6d
https://research.vumc.nl/en/publications/18d20b73-f09c-4be1-bed0-730fa5cd1c6d
Publikováno v:
European Journal of Paediatric Neurology, 14(5), 452-455. ELSEVIER SCI LTD
Hypothermia can reduce seizure frequency in animal models of status epilepticus, and its effectiveness in human status epilepticus has been reported occasionally. We report an infant with hemimegalencephaly who presented with generalized status epile