Zobrazeno 1 - 10
of 284
pro vyhledávání: '"Andrea Poretti"'
Autor:
Andrea Poretti, Gwendolyn J. Gerner
Publikováno v:
Pediatric Neurology Briefs, Vol 30, Iss 12 (2016)
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center stu
Externí odkaz:
https://doaj.org/article/e2e712d39564456d9375f56ac93dc2fe
Autor:
Xiaoying Tang, Shoko Yoshida, John Hsu, Thierry A G M Huisman, Andreia V Faria, Kenichi Oishi, Kwame Kutten, Andrea Poretti, Yue Li, Michael I Miller, Susumu Mori
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96985 (2014)
In this paper, we propose a novel method for parcellating the human brain into 193 anatomical structures based on diffusion tensor images (DTIs). This was accomplished in the setting of multi-contrast diffeomorphic likelihood fusion using multiple DT
Externí odkaz:
https://doaj.org/article/6ac9c28999c1447684c274a34c5f4769
Autor:
Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung
Publikováno v:
Human Mutation. 41:150-168
Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inac
Autor:
Kathryn A. Carson, Thierry A.G.M. Huisman, Tanjala T. Gipson, Andrea Poretti, Sarah A. Kelley, Michael V. Johnston
Publikováno v:
Journal of Neuroimaging
BACKGROUND AND PURPOSE Tuberous sclerosis complex (TSC) is a rare, genetic disease that is associated with multiple manifestations including epilepsy and autism. Self‐injurious behaviors (SIBs) also occur in a subset of patients. This study used di
Autor:
Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe S. Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, Patricia A. Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Human Mutation. 41
Publikováno v:
Neuropediatrics. 49:302-309
Introduction Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is n
Publikováno v:
Mov Disord Clin Pract
Autor:
Alessia Micalizzi, Maria Margherita Mancardi, Stefano D'Arrigo, Annette Hackenberg, Andrea Rossi, Alma Kuechler, Enza Maria Valente, Eugen Boltshauser, Barbara Oehl-Jaschkowitz, Frank Tüttelmann, Andrea Citterio, Maria Teresa Bassi, Dagmar Wahl, Angela Berardinelli, Raffaella Cusmai, Andrea Poretti, Ute Hehr, Filippo Arrigoni, Elena Panzeri, Maria Francesca Bedeschi, Renato Borgatti, Sara Nuovo, Alessandro Ferraris, Sabrina Signorini, Romina Romaniello
Publikováno v:
European Radiology. 27:5080-5092
To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. Twenty-eight patients harbouring 23 hete
Publikováno v:
Neuroradiology. 59:797-802
Developmental venous anomalies (DVA) are common neuroimaging abnormalities that are traditionally diagnosed by contrast-enhanced T1-weighted images as the gold standard. We aimed to evaluate the sensitivity of SWI in detecting DVA and associated cave
Autor:
Becky J. Riggs, Samuel S. Shin, Renee D. Boss, Misun Hwang, Christopher R. Bailey, Shai Shrot, Andrea Poretti, Thierry A.G.M. Huisman, Emily Dunn, Bruno P. Soares, Melissa R. Spevak, Stephan Herman, Robert M. de Jong, Aylin Tekes‐Brady
Publikováno v:
Journal of Ultrasound in Medicine. 36:2379-2386
Sensitive, specific, and safe bedside evaluation of brain perfusion is key to the early diagnosis, treatment, and improved survival of neonates with hypoxic ischemic injury. Contrast-enhanced ultrasound (US) imaging is a novel imaging technique in wh