Results 181 to 190 of about 445,217 (392)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Abscesses in the Right Lobe of the Cerebellum: With Caries of the Petrous Bone [PDF]

William T. Budd
openalex   +1 more source

Tumour under Left Lobe of Cerebellum [PDF]

, 1880
David Ferrier
openalex   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

The Lettsomian Lectures ON THE CEREBELLUM AND ITS AFFECTIONS: Delivered before the Medical Society of London [PDF]

, 1910
J. S. Risien Russell
openalex   +1 more source

Effects of Fragmentary and Complete Extirpation of the Cerebellum in the Cat [PDF]

, 1932
G. W. T. H. Fleming
openalex   +1 more source

On the Functions of the Cerebellum [PDF]

The Boston Medical and Surgical Journal
The paper is divided into two Parts; the first gives the results of expe­riments on animals; the second, of observations upon the human being. Part I. Assuming that the great divisions of the brain preserve each the same function through the vertebrate kingdom, it is maintained that experiments which can be performed only on such of the lower animals ...
openaire   +3 more sources

Effects of Dictyophora polysaccharide on cerebellar Purkinje cell degeneration in a chronic alcohol mouse model

Animal Models and Experimental Medicine, EarlyView.
In an ethanol (EtOH)‐treated mouse model, increases in the NLRP3 inflammasome proteins, PC degeneration, and motor coordination disorders were observed. DIP suppressed the NLRP3‐ASC‐caspase‐1 signaling pathway, and alleviated the motor deficits and cerebellar pathological changes in chronic EtOH‐treated mice.
Jian Zhang, Zhihui Dai, Huanhuan Yu, Baofei Sun, Jiuyang Ding, Yuanhe Wang   +5 more
wiley   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source

Cancerous Disease of the Cerebellum [PDF]

Emily Pond
openalex   +1 more source