Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Pierre-Yves Jeannet"'
Autor:
Sébastien Jacquemont, Pierre-Yves Jeannet, Frederic Guerry, Diana Ballhausen, André Schaller, Luisa Bonafé, Jean-Marc Nuoffer, Dagmar Hahn
Publikováno v:
Ballhausen, Diana; Guerry, Frédéric; Hahn, Dagmar; Schaller, André; Nuoffer, Jean-Marc; Bonafé, Luisa; Jeannet, Pierre-Yves; Jacquemont, Sebastien (2010). Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of inherited metabolic disease, 33 Suppl 3, S219-S226. Lancaster, UK: Springer
Journal of Inherited Metabolic Disease, vol. 33 Suppl 3, no. Suppl 3, pp. S219-S226
Journal of Inherited Metabolic Disease, vol. 33 Suppl 3, no. Suppl 3, pp. S219-S226
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G is associated with respiratory chain complex I deficiency and has been described as a rare cause of mostly adult-onset slowly progressive myopathy. Five families with 11 patients have been described s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c41769c51b7504bc0b0f6ceba5c5d1
http://doc.rero.ch/record/310391/files/10545_2010_Article_9098.pdf
http://doc.rero.ch/record/310391/files/10545_2010_Article_9098.pdf
Autor:
Ulrike Schara, Diana Castro, T. Gidaro, S. Lutz, Ksenija Gorni, Janbernd Kirschner, Antonella Taglia, V. Doppler, F. Knipp, Christian Rummey, Jan J.G.M. Verschuuren, Thomas Meier, Gihan Tennekoon, J.J. Vílchez Padilla, E. Falcier, Luisa Politano, Craig M. McDonald, Chiara S. M. Straathof, S. Borell, S. Coopman, Matthew J. Will, Pierre-Yves Jeannet, Nathalie Goemans, Paolo Spagnolo, Jean-Marie Cuisset, Carsten G. Bönnemann, R.C. Richardson, G. Bernert, Thomas Sejersen, N. Muelas Gómez, Maria Grazia D'Angelo, Erika Brighina, Thomas Voit, S. Gandossini, Mika Leinonen, Susan T. Iannaccone, Oscar H. Mayer, Gunnar M. Buyse, Clemens Bloetzer, M. van den Hauwe, Susan D. Apkon, Richard S. Finkel, G. Buyse, P. D’Ambrosio, Erik K Henricson, Nanette C. Joyce, M. Hovmöller
Publikováno v:
Europe PubMed Central
Neuromuscular Disorders, 27(4), 307-314
Neuromuscular Disorders, 27(4), 307-314
Pulmonary function loss in patients with Duchenne muscular dystrophy (DMD) is progressive and leads to pulmonary insufficiency. The purpose of this study in 10-18 year old patients with DMD is the assessment of the inter-correlation between pulmonary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21864040305a8729c1e8de925e0e87c
http://hdl.handle.net/11577/3276306
http://hdl.handle.net/11577/3276306
Publikováno v:
Acta Paediatrica. 101:1265-1269
Aim: Determine the frequency and predictors of sleep disorders in boys with Duchenne Muscular Dystrophy (DMD). Method: Cross-sectional study by postal questionnaire. Sleep disturbances were assessed using the Sleep Disturbance Scale for Children (val
Autor:
J.A. Lobrinus, Jon Andoni Urtizberea, M. Goicoechea, Murray Krahn, A. Lopez de Munain, Amets Sáenz, Marc Bartoli, Sébastien Jacquemont, Nicolas Lévy, F. Leturcq, E. Groen, Christophe Pécheux, Federico García-Bragado, Pierre-Yves Jeannet, K. Bushby, Frank Hanisch, Jonathan B. Strober
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2011, 80 (4), pp.398-402. ⟨10.1111/j.1399-0004.2010.01620.x⟩
Clinical Genetics, 2011, 80 (4), pp.398-402. ⟨10.1111/j.1399-0004.2010.01620.x⟩
Clinical Genetics, Vol. 80, No 4 (2011) pp. 398-402
Clinical Genetics, Wiley, 2011, 80 (4), pp.398-402. ⟨10.1111/j.1399-0004.2010.01620.x⟩
Clinical Genetics, 2011, 80 (4), pp.398-402. ⟨10.1111/j.1399-0004.2010.01620.x⟩
Clinical Genetics, Vol. 80, No 4 (2011) pp. 398-402
International audience; no abstract
Autor:
Marwan El-Koussy, Joel Victor Fluss, Marcel Arnold, Peter Weber, Sandra Bigi, Krassen Nedeltchev, Edith Wehrli, Eugen Boltshauser, Heinrich Mattle, Pierre-Yves Jeannet, Sarah Burki, Urs Fischer, Maja Steinlin
Publikováno v:
Annals of Neurology, Vol. 70, No 2 (2011) pp. 245-54
The aim of this study was to compare children and young adults with acute ischemic stroke (AIS) in 2 large registries.We compared clinical characteristics, stroke etiology, workup, and outcome (modified Rankin scale score [mRS] at 3-6 months) in chil
Autor:
Anisoara Paraschiv-Ionescu, Kamiar Aminian, Clemens Bloetzer, Pierre Yves Jeannet, Bijan Najafi
Publikováno v:
European Journal of Paediatric Neurology. 15:40-47
Multiple motor function and strength assessment tools exist for the evaluation of neuromuscular diseases, but most do not directly assess functional ability in the patients' daily physical activity in their home environment. In this study our aim was
Autor:
Danielle Gubser-Mercati, Thomas Schmitt-Mechelke, Kevin Wingeier, Joel Victor Fluss, Peter Weber, Pierre-Yves Jeannet, Andrea Capone, M Weissert, Sebastian Grunt, Elmar Keller, Jean-Pierre Marcoz, Eugen Boltshauser, Maja Steinlin, Edith Wehrli
Publikováno v:
Developmental Medicine & Child Neurology. 52:1145-1150
AIMo describe the characteristics of paediatric cerebral sinus venous thrombosis (CSVT) in Switzerland.
Autor:
Danielle Mercati, Maja Steinlin, Elmar Keller, Eugen Boltshauser, Caroline C. Menache, Juerg Luetschg, Sarah E. Buerki, Gian Paolo Ramelli, Luca Remonda, M Weissert, Katja Roellin, Pierre-Yves Jeannet, Thomas Schmitt-Mechelke
Publikováno v:
Developmental Medicine & Child Neurology. 52:1033-1037
Aim The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and to differentiate them according to stroke aetiology. Method Clinical and neuroimaging (acute and follow-up) findings were
Autor:
Frances M. Cowan, Mary A. Rutherford, T.A.G.M. Huisman, Daniela Prayer, Eugen Boltshauser, A. J. Du Plessis, Catherine Limperopoulos, E. Del Giudice, Pierre-Yves Jeannet, Andrea Poretti
Publikováno v:
Neuropediatrics. 40:228-233
We recently described the neuroimaging and clinical findings in 6 children with cerebellar clefts and proposed that they result from disruptive changes following prenatal cerebellar hemorrhage. We now report an additional series of 9 patients analyzi
Publikováno v:
Current Pediatric Reviews. 4:159-163