Results 261 to 270 of about 150,942 (326)

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models. [PDF]

J Neurodev Disord
Goel A, Razak KA, Chubykin AA, Antoine MW.   +3 more
europepmc   +1 more source

High‐Resolution Single‐Neuron Reconstruction Analysis in Golgi‐Stained Brain Tissues

Cell Proliferation, EarlyView.
SNR‐Golgi, a semi‐automated single−neuron$$ \mathrm{single}-\mathrm{neuron} $$ three‐dimensional reconstruction strategy for Golgi−stained samples$$ \mathrm{Golgi}-\mathrm{stained}\ \mathrm{samples} $$, which integrates background denoising$$ \mathrm{background}\ \mathrm{denoising} $$, single‐neuron extraction and branch repair,$$ \mathrm{branch ...
Qiaowei Tang, Binfu Fan, Xiaoqing Cai, Zhiming Shen, Jichao Zhang, Jun Hu, Jiang Li, Ying Zhu   +7 more
wiley   +1 more source

Behavioural and electrophysiological correlates of sensory attenuation in the somatosensory and auditory modality within a virtual reality setup. [PDF]

Sci Rep
Giannini G, Nierhaus T, Soldatova P, Blankenburg F.   +3 more
europepmc   +1 more source

Somatosensory system; touch : Physiology and Neuronal Correlates of Discriminative and Affective Touch

, 2014
Clara Dahlquist
openalex   +1 more source

Predictors of upper‐extremity motor outcomes after constraint‐induced therapy or bimanual training in children with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To systematically review the factors that predict changes in upper‐extremity motor function in response to constraint‐induced movement therapy (CIMT) or bimanual training in children with cerebral palsy (CP). Method The PubMed, Cochrane, Embase, Scopus, CINAHL, and PEDro databases were searched. Studies were included if predictor variables
Emmanuel Segnon Sogbossi, Esther C. Zannou, Eric Dossa, Charbelia Houessou, Todegnon Franck Assogba, Marie Longton, Gauthier Everard, Catherine Mercier   +7 more
wiley   +1 more source

Trigeminal Nerve and Vestibular System: Update on Pathophysiological and Clinical Links. [PDF]

Audiol Res
Faralli M, Santopietro G, Frati F, Califano L.   +3 more
europepmc   +1 more source

Sensory network dysregulation in type 2 diabetes: Linking olfactory, visual, and cognitive function

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims This study investigates the relationship between multisensory (visual, somatosensory, and olfactory) dysfunction and cognitive decline in Type 2 diabetes (T2D), with a particular focus on the mediating role of olfactory dysfunction. Methods We used resting‐state fMRI to assess seed‐based functional connectivity from the primary sensory ...
Qian Li, Xin Li, Yan Bi, Jiaming Lu, Yi Zhang, Min Wu, Xinyi Shen, Zhengyang Zhu, Xin Zhang, Yining Chao, Zhou Zhang, Wen Zhang, Bing Zhang   +12 more
wiley   +1 more source

Determination of Hemodynamic Response Using fNIRS in Lower Extremity Amputee and Replant Patients. [PDF]

Int Wound J
Süzen E, Özkan Ö, Özkan Ö, Çolak ÖH, Doğan EA, Şimşek B, Şavklıyıldız A, Tombak K, Carlak HF, Uluşar ÜD, Polat Ö, Özen Ş.   +11 more
europepmc   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source