Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Manuela, Casarano"'
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Inter and intra-rater reliability and minimal detectable difference of Movement Disorder-Childhood Rating Scale
Autor: Valentina Menici, Roberta Battini, Ilaria Olivieri, Giovanni Cioni, Simona Lucibello, Chiara Velli, Manuela Casarano, Francesca Sini, Giuseppina Sgandurra, Domenico M. Romeo, Roberta Di Pietro
Publikováno v: European Journal of Physical and Rehabilitation Medicine. 54
BACKGROUND Movement Disorder-Childhood Rating Scales (MD-CRS) have been designed in two forms (0-3 and 4-18 years) to accurately evaluate various movement disorders in children. AIM The aim of this study is to evaluate the MD-CRS reliability when use
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8bd43152241ec13dabec84bec854cd1
https://doi.org/10.23736/s1973-9087.17.04661-5
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3
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
Autor: Claudia Casalini, Michela Tosetti, Giovanni Cioni, Roberta Battini, Manuela Casarano, M. Grazia Alessandrì
Publikováno v: Orphanet Journal of Rare Diseases
Background Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural diso
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d8938db921396528c713b20332656d8
https://pubmed.ncbi.nlm.nih.gov/28148286
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4
Cognitive, adaptive, and behavioral features in Joubert syndrome
Autor: Roberta Battini, Marilena Briguglio, Marina Zoppello, Enrico Bertini, Daria Riva, Vincenzo Leuzzi, Maria Lucia Di Sabato, Sabrina Signorini, Marta Romani, Gaetano Tortorella, Sara Bulgheroni, Paolo Alfieri, Manuela Casarano, Enza Maria Valente, Stefano D'Arrigo, Francesca Mancini
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive cerebellar and brainstem malformation recognizable on brain imaging, the so-called molar tooth sign. The full spectrum of cognitive and behavioral phenoty
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a912ea957486ceb0055a976f45106d
http://hdl.handle.net/11568/949180
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5
Treatment withl-Arginine improves neuropsychological disorders in a child with Creatine transporter defect
Autor: Elena Moretti, M. Cristina Bianchi, M. Grazia Alessandrì, Vincenzo Leuzzi, Giovanni Ferretti, Anna Maria Chilosi, Giovanni Cioni, Alessandro Comparini, Roberta Battini, Manuela Casarano, Michela Tosetti
Publikováno v: Neurocase. 14:151-161
Creatine transporter deficit (CT1) is an inherited metabolic disorder that causes mental retardation, epilepsy, speech, language and behavioral deficits. Until now, no treatment has been proven to be successful for this condition. We describe 1-year
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f27edb089a063c1e254354d55196ccb
https://doi.org/10.1080/13554790802060821
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6
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description
Autor: Rosa Pasquariello, Roberta Battini, Guja Astrea, Giovanni Cioni, Giampiero I. Baroncelli, Enrico Bertini, Lorena Travaglini, Manuela Casarano, Silvano Bertelloni
Publikováno v: BMC Medical Genetics
Background The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogona
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33f5e532f8b77d5bd47073ba8dcde3e
https://doi.org/10.1186/s12881-015-0203-0
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7
Movement Disorder-Childhood Rating Scale: A Sensitive Tool to Evaluate Movement Disorders
Autor: Giuseppina Sgandurra, Giovanni Cioni, Roberta Battini, Domenico M. Romeo, Ilaria Olivieri, Roberta Di Pietro, Manuela Casarano
Background The Movement Disorder-Childhood Rating Scale represents a new tool for assessment of movement disorders during developmental age. In this study, we evaluated a cohort of 68 patients affected by various types of movement disorders and treat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b572ce11fbc86977a46247021891f877
http://hdl.handle.net/11568/761727
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8
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum
Autor: Giovanni Cioni, Ilaria Pezzini, Manuela Casarano, Roberta Battini, Maria Grazia Alessandrì, Stefano Doccini, Claudia Nesti
Publikováno v: JIMD Reports ISBN: 9783662445860
Aminoacylase 1 (ACY1) deficiency is a rare inborn error of metabolism presenting with heterogeneous neurological symptoms such as psychomotor delay, seizures, intellectual disability and it is characterized by increased urinary excretion of N-acetyla
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34846334d4f2450b0c3dbe3819c3e232
http://hdl.handle.net/11568/761755
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9
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Autor: Catherine Vanhulle, Lynne A. Wolfe, Chumei Li, Eileen Baildam, Bertrand Isidor, John Tolmie, Yoandris del Toro Duany, Yanick J. Crow, Gabriella M A Forte, Gillian I. Rice, Simona Orcesi, Mondher Chouchane, Michael W. Beresford, Nuno Cordeiro, Beverley Anderson, Liesbeth De Waele, Pierre Lebon, Diana Rodriguez, James O'Sullivan, Marta Szybowska, Rolando Cimaz, Isabelle Desguerre, Giada Ariaudo, Manoj P. Menezes, Kate Webb, Robyn Whitney, Sun Hur, Simon G. Williams, Joyce Davidson, Russell C. Dale, Andrew Latchman, Laurence Faivre, Abigail Collins, Robert Robinson, Adeline Vanderver, Christiaan Scott, Iain B. McInnes, Enrica Riva, Cyril Mignot, Roberta Battini, José Pedro Vieira, Brigitte Bader-Meunier, Emma M. Jenkinson, Elisa Fazzi, Paolo Picco, Lieven Lagae, Elisabetta Salvatici, Manuela Casarano, Sameer M. Zuberi, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel-Paulet, John H. Livingston
Publikováno v: Nature Genetics; Vol 46
Nature Genetics
Nature genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0ab15ef0ea89e7de71b0fd808541bf
https://pubmed.ncbi.nlm.nih.gov/25080300
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10
Responsiveness of the MD-childhood rating scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment
Autor: Roberta Di Pietro, Ilaria Olivieri, Manuela Casarano, Eugenio Mercuri, Domenico M. Romeo, Roberta Battini, Giuseppina Sgandurra, Giovanni Cioni
Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(6)
Background Movement Disorder-Childhood Rating Scale (MD-CRS) is a new tool for assessment of movement disorders during developmental age. Aim In this study we evaluated a cohort of 47 patients affected by dyskinetic cerebral palsy and treated with an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d51a28cee74faff7e0570f4025234226
https://pubmed.ncbi.nlm.nih.gov/25022341
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