Zobrazeno 1 - 10
of 64
pro vyhledávání: '"J. Vry"'
Autor:
Maria de los Angeles Beytía, Anna Lusakowska, Petr Vondráček, Birgit F. Steffensen, Sam Doerken, K. Gramsch, Agnes Herczegfalvi, Hanns Lochmüller, Kate Bushby, Veronika Karcagi, Anna Kostera-Pruszczyk, Marta Garami, Adrian Tassoni, Teodora Chamova, Lenka Mrázová, Lenka Pavlovska, Sunil Rodger, Velina Guergueltcheva, Rachel Thompson, J. Vry, Jes Rahbek, Janbernd Kirschner, Jana Strenková, Ivailo Tournev, Anna Kamińska
Publikováno v:
Journal of Neuromuscular Diseases
Background: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96d0ce7fb96be91956cbc2e6104a65f
https://doi.org/10.3233/jnd-160185
https://doi.org/10.3233/jnd-160185
Autor:
Jose Angel Santamaria-Araujo, Sarah C. Grünert, Jochen Reiss, Janbernd Kirschner, Günter Schwarz, Jörn Oliver Sass, J. Vry, Irina Mader, Jan-Bernd Hövener, Simon J. Mayr
Publikováno v:
Journal of inherited metabolic disease. 41(2)
Molybdenum cofactor deficiency is an autosomal recessive inborn error of metabolism, which results from mutations in genes involved in Moco biosynthesis. Moco serves as a cofactor of several enzymes, including sulfite oxidase. MoCD is clinically char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebb7a8aa7e82836c3935b87693639d7
https://pubmed.ncbi.nlm.nih.gov/29368224
https://pubmed.ncbi.nlm.nih.gov/29368224
Autor:
Rachel Thompson, Janbernd Kirschner, Katharine Bushby, Katherine L. Woods, Sunil Rodger, K. Gramsch, Hanns Lochmüller, Catherine L. Bladen, Angela Stringer, J. Vry
Publikováno v:
Journal of Neurology
Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173e12b5b33a26c4460e9f7d9ab0ffd7
https://doi.org/10.1007/s00415-014-7585-3
https://doi.org/10.1007/s00415-014-7585-3
Autor:
Rachel Thompson, Janbernd Kirschner, Ann-Lisbeth Højberg, J. Vry, Jes Rahbek, Christiane Otto, Sunil Rodger, Ulrike Ravens-Sieberer, Annette Mahoney, Kate Bushby, K. Gramsch, Hanns Lochmüller, Birgit F. Steffensen, Claus Barkmann
Publikováno v:
Journal of neurology. 264(4)
Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Relate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba28d81c65dc10ec5625728ca796a5e
https://pubmed.ncbi.nlm.nih.gov/28175989
https://pubmed.ncbi.nlm.nih.gov/28175989
Publikováno v:
Monatsschrift Kinderheilkunde. 160:177-186
Die Muskeldystrophie Duchenne (DMD) ist nicht nur die haufigste, sondern auch eine der schwerwiegendsten neuromuskularen Erkrankungen im Kindesalter. Der naturliche Verlauf ist durch zunehmende Muskelschwache mit Rollstuhlpflichtigkeit um das 10. Leb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7feb0f4123316fe13e7916b048d2342f
https://doi.org/10.1007/s00112-011-2603-3
https://doi.org/10.1007/s00112-011-2603-3
Autor:
Markus Uhl, M. Hodapp, Steffen Berweck, Ulrike Bonati, M. Faist, M. Linder-Lucht, J. Vry, Volker Mall
Publikováno v:
Experimental Brain Research. 186:611-618
Periventricular leukomalacia (PVL) is the most frequent cause of spastic diplegia. The movement disorder is attributed to damage to the corticospinal tract, but there is increasing evidence of additional cortical dysfunction associated with PVL. Aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::138a44febd6d4ac3410385c617e9930e
https://doi.org/10.1007/s00221-007-1267-7
https://doi.org/10.1007/s00221-007-1267-7
Publikováno v:
Journal of Neurophysiology. 98:3263-3268
In healthy adults, soleus H-reflexes are rhythmically modulated and generally depressed during gait compared with rest. From ages 6 to 13 yr, there is a progressive increase in the tonic inhibition of H-reflexes during walking, especially during the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b09610d67540819c9ad4a34b9fc020d
https://doi.org/10.1152/jn.00471.2007
https://doi.org/10.1152/jn.00471.2007
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(2)
Introduction Whole-body-vibration training is used to improve muscle strength and function and might therefore constitute a potential supportive therapy for neuromuscular diseases. Objective To evaluate safety of whole-body vibration training in ambu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e44114788947815fc6246e1a109f1b4
https://pubmed.ncbi.nlm.nih.gov/24157400
https://pubmed.ncbi.nlm.nih.gov/24157400
Autor:
Janbernd Kirschner, J. Vry, Jes Rahbek, K. Gramsch, Kate Bushby, Hanns Lochmüller, Sunil Rodger, Birgit F. Steffensen
Publikováno v:
Neuropediatrics. 44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8650e3f8ec7f3803fea8607f0601ce63
https://doi.org/10.1055/s-0033-1337747
https://doi.org/10.1055/s-0033-1337747
Autor:
F. Takeuchi, H. Komaki, S. Rodger, J. Kirschner, E. Kimura, S. Takeda, K. Gramsch, J. Vry, K. Bushby, H. Lochmuller, K. Wada, H. Nakamura
Publikováno v:
Neuromuscular Disorders. 26:S123
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f763e8e52d89c3f41b7f83b4bead167d
https://doi.org/10.1016/j.nmd.2016.06.137
https://doi.org/10.1016/j.nmd.2016.06.137