Results 11 to 20 of about 25,637 (173)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Boston University Choral Ensembles, November 14, 2009 [PDF]

, 2009
This is the concert program of the Boston University Choral Ensembles performance on Saturday, November 14, 2009 at 7:30 p.m., at Marsh Chapel, 735 Commonwealth Avenue, Boston, Massachusetts.
School of Music, Boston University
core  

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Boston University Repertory Chorus, Boston University Women's Chorale, and Boston University Men's Chorus [PDF]

, 2000
This is the concert program of the Boston University Repertory Chorus, Boston University Women's Chorale, and Boston University Men's Chorus performance on Saturday, April 29, 2000 at 1:30 p.m., at Boston University Marsh Chapel, 735 Commonwealth Avenue.
School of Music, Boston University
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Neuroimaging and psychophysiological investigation of the link between anxiety, enhanced affective reactivity and interoception in people with joint hypermobility [PDF]

, 2014
Objective: Anxiety is associated with increased physiological reactivity and also increased “interoceptive” sensitivity to such changes in internal bodily arousal.
Adolphs, Baron, Beighton, Bianchi Sanches, Bulbena, Bulbena, Critchley, Damasio, Damsa, Domschke, Eccles, Freeman, Garcia-Campayo, Garfinkel, Gianaros, Goldin, Holzschneider, Katkin, Lamm, Lang, Mathias, Mehling, Mikels, Mor, Parkin, Paulus, Payne, Pollatos, Pollatos, Ross, Schandry, Shurick, Simmons, Slotnick, Smith, Spielberger, Wiens, Wiens   +37 more
core   +2 more sources

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Sex differences in neurocognitive performance in older adults with bipolar disorder

European Psychiatry
Introduction In recent years, research has focused on the older adults with bipolar disorder (OABD), aged 50 years and over, a constantly growing population due to the increased of life expectancy.
S. Martín-Parra, C. Torrent, A. Ruiz, M. Bort, G. Fico, V. Oliva, M. D. Prisco, J. Sanchez-Moreno, E. Jimenez, A. Martinez-Aran, E. Vieta, B. Sole, L. Montejo   +12 more
doaj   +1 more source

Art v 1 and Amb a 4 Co‐Sensitization Identifies Italian Patients at Risk for Mugwort‐Celery‐Spice Syndrome

Allergy, EarlyView.
Three molecular profiles identified among Art v 1/Amb a 4‐sensitized patients: Art v 1 monosensitization, Amb a 4 monosensitization, and dual sensitization to both allergens. Art v 1 monosensitization was predominantly associated with allergic rhinitis, reflecting a classical airborne allergy pattern.
Enrico Scala, Gabriella Cusa, Valeria Villella, Damiano Abeni, Mauro Giani, Emma Cristina Guerra, Maria Locanto, Giorgia Meneguzzi, Lia Pirrotta, Donato Quaratino, Alessandra Zaffiro, Elisabetta Caprini, Maria Barrale, Ignazio Brusca, Valerio Pravettoni, Lorenzo Cecchi, Danilo Villalta, Martina Aumayr, Irene Mittermann, Christian Lupinek, Riccardo Asero   +20 more
wiley   +1 more source

La formació en l’àmbit de la salut mental: experiències de fotografia participativa

Revista Catalana de Pedagogia, 2017
Des de l'Àrea d'Educació de la Fundació Photographic Social Vision es presenten dos projectes de fotografia participativa per a l'educació visual i inclusió social.
Alice Monteil, Mireia Plans
doaj