Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

Autor: Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy., Kearney M; Patient Advocate at the European Reference Network Representing Individuals With Ataxia, and Neurology Research Fellow at the National Ataxia Centre, Tallaght University, Dublin, Ireland., Boesch S; Center for Rare Movement Disorders, Department of Neurology, Innsbruck, Austria., Stovickova L; Centre of Hereditary Ataxias, Department of Pediatric Neurology, Second Faculty of Medicine and Motol University Hospital, Prague, Czech Republic., Ortigoza-Escobar JD; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Macaya A; Pediatric Neurology, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, and Universitat Autònoma de Barcelona, Bellaterra, Spain., Gomez-Andres D; Pediatric Neurology, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, and Universitat Autònoma de Barcelona, Bellaterra, Spain., Roze E; Sorbonne University, INSERM, CNRS, Paris Brain Institute, APHP Salpêtrière Hospital, Paris, France., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma's Children's Hospital, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands., Darling A; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Vasco G; Research Unit of Neurorehabilitation, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Indelicato E; Center for Rare Movement Disorders, Department of Neurology, Innsbruck, Austria., Neubauer D; UMCL, Children's Hospital Ljubljana and University of Ljubljana, Ljubljana, Slovenia., Haack TB; Institute of Medical Genetics and Applied Genomics University of Tübingen, Tübingen, Germany., Sagi JC; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; Department of Paediatrics, Semmelweis University, Dept. of Genetics, Cell- and Immunobiology, Semmelweis University, Budapest, Hungary., Danti FR; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sival D; Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Zanni G; Unit of Neuromuscular and Neurodegenerative Disease, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Kolk A; Tartu University Hospital Children's Clinic, Department of Pediatrics and Neurology, Tartu, Estonia., Boespflug-Tanguy O; APHP, Université Paris Cité, INSERM UMR1141, Hôpital Robert Debré, Service de Neuropédiatrie, Centre de Reference LEUKOFRANCE, Paris, France., Schols L; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases, Tübingen, Germany., van de Warrenburg B; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vidailhet M; Sorbonne University, INSERM, CNRS, Paris Brain Institute, APHP Salpêtrière Hospital, Paris, France., Willemsen MA; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Buizer AI; Department of Rehabilitation Medicine, Emma Children's Hospital, Amsterdam, Vrije Universiteit, Amsterdam, Amsterdam Movement Science, Rehabilitation and Development, Amsterdam, The Netherlands., Orzes E; Osservatorio Malattie Rare - Rarelab S.R.L., Rome, Italy., Ripp S; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Reinhard C; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy. caterina.mariotti@istituto-besta.it.

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Mar; Vol. 45 (3), pp. 1007-1016. Date of Electronic Publication: 2023 Oct 19.

OC.04.7 IDENTIFICATION OF PROTEOMIC PROFILES ASSOCIATED WITH TUMOR REGRESSION GRADING IN RECTAL CANCER

Autor: De Re, V., Repetto, O., De Paoli, A., Fornasarig, M., Maiero, S., Buonadonna, A., Belluco, C., Orzes, E., Zucchi, E., Canzonieri, V., Cannizzaro, R.

Publikováno v: In Digestive and Liver Disease 24 February 2016 48 Supplement 2:e85-e86

P.16.6 AMINOPYRINE BREATH TEST AS A DIAGNOSTIC TOOL TO EVALUATE HEPATIC FUNCTIONAL RESERVE IN NEOPLASTIC PATIENTS RECEIVING HIGH DOSE CHEMOTHERAPY

Autor: Orzes, E., Tabuso, M., Maiero, S., Michieli, M., Rupolo, M., Fornasarig, M., Cannizzaro, R.

Publikováno v: In Digestive and Liver Disease March 2014 46 Supplement 2:S116-S116

OC.08.1 NATURAL HISTORY OF LYNCH SYNDROME IN NORTHEASTERN ITALY

Autor: Tabuso, M., Orzes, E., Talamini, R., Viel, A., Canzonieri, V., Cannizzaro, R., Fornasarig, M.

Publikováno v: In Digestive and Liver Disease March 2014 46 Supplement 2:S20-S20

P.13.9 PROBE-BASED CONFOCAL LASER ENDOMICROSCOPY (PCLE) FOR IN VIVO EVALUATION OF THE TUMORAL VASCULATURE IN COLORECTAL CARCINOMA TREATED PATIENTS

Autor: Cannizzaro, R., Mongiat, M., Spessotto, P., Canzonieri, V., Maiero, S., Todaro, F., Orzes, E., Colombatti, A., Fornasarig, M., De Paoli, P.

Publikováno v: In Digestive and Liver Disease March 2013 45 Supplement 2:S184-S184