Results 191 to 200 of about 154,845 (263)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Time-dependent diffusion MRI of soft tissue tumors: correlations with Ki-67 proliferation status. [PDF]

Quant Imaging Med Surg
Yan Z, Wang M, Zhao J, Duan L, Feng X, Zhang X, Liu H, Liang W, Wang B, Cao X, Jiang Y, Wang M, Feiweier T, Yu H.   +13 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Microstructural variation of hippocampal substructures across childhood and adolescence quantified with high-gradient diffusion MRI. [PDF]

Commun Biol
Karat BG, Genc S, Raven EP, Palombo M, Khan AR, Jones DK.   +5 more
europepmc   +1 more source

A relaxation-diffusion MRI dataset of aging mouse brains at 9.4 Tesla. [PDF]

Sci Data
Ren B, Wu Y, Liu Y, Bai Y, Tao Q, Feng Y, Zhang X.   +6 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

AI‐Driven Mapping of Seizure Spread Patterns

Annals of Neurology, EarlyView.
Objective The focus of epilepsy research has largely been on seizure onset; however, physicians typically examine the patterns of seizure spread past seizure onset as well. This study aims to align automated seizure analysis with clinical practice, leverage deep learning to standardize seizure annotations that varies among physicians, and understand ...
Andrew Y. Revell, Marc Jaskir, Akash R. Pattnaik, William K. S. Ojemann, Erin Conrad, Nishant Sinha, Brittany H. Scheid, Alfredo Lucas, John M. Bernabei, John Beckerle, Joel M. Stein, Sandhitsu R. Das, Brian Litt, Kathryn A. Davis   +13 more
wiley   +1 more source

Microstructure imaging in patients undergoing evaluation for epilepsy surgery or low-grade glioma: Clinical utility of a novel diffusion MRI method. [PDF]

Epilepsia Open
Grubor I, Serednicka K, Säll C, Strandberg MC, Nilsson M, Bengzon J.   +5 more
europepmc   +1 more source

Multimodal Image Guidance in Subthalamic Deep Brain Stimulation for Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Accurate electrode placement and individual stimulation parameters influence the outcomes of subthalamic deep brain stimulation in Parkinson's disease. Neuroimaging‐based models can help evaluate how electrode placement impacts improvement, aiming to reduce the burden of programming.
Patricia Zvarova, Christina van der Linden, Ningfei Li, Konstantin Butenko, Thea Berger, Garance M. Meyer, Ilkem Aysu Sahin, Lukas L. Goede, Bahne H. Bahners, Barbara Hollunder, Till A. Dembek, Andrew R. Pines, Martin Reich, Jens Volkmann, Vincent J. J. Odekerken, Rob M. A. de Bie, Xin Xu, Zhipei Ling, Chen Yao, Andrea A. Kühn, Surjo R. Soekadar, Kerstin Ritter, Michael T. Barbe, Veerle Visser‐Vandewalle, Michael D. Fox, Jan Niklas Petry‐Schmelzer, Nanditha Rajamani, Andreas Horn   +27 more
wiley   +1 more source