Results 201 to 210 of about 734,607 (408)
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks+20 more
wiley +1 more source
The fictional Italian author Morelli is throughout the novel “Hopscotch” (1963) Julio Cortázar's alter ego. This character proposes an unoriginal literary hypothesis in chapter 62. There is an allusion to a particular Swedish that ‘
Guillermo Delgado, Bruno Estañol
doaj
Javier Defelipe and Edward G. Jones (eds), Cajal's Degeneration and regeneration of the nervous system, transl. Raoul M. May, History of Neuroscience No. 5, New York, Oxford University Press, 1991, pp. xvi, 769, illus., £60.00 (0-19-506516-6). [PDF]
Edwin Clarke
openalex +1 more source
Book Review: Biologic Psychiatry for the Biologist [PDF]
PSYCHOPHARMACOLOGY: THE THIRD GENERATION OF PROGRESS Edited by Herbert Y.
Seibyl, M.D., John P.
core +1 more source
ABSTRACTObjectiveCerebrospinal fluid (CSF) orexin‐A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin‐A is positively associated with CSF Aβ42, p‐tau181, and total tau (t‐tau) concentrations.
Ruijin Lu+13 more
wiley +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron+3 more
wiley +1 more source
Cognitive Neuroscience Analyses of Memory: A Historical Perspective [PDF]
Michael R. Polster+2 more
openalex +1 more source
Regional microglia are transcriptionally distinct but similarly exacerbate neurodegeneration in a culture model of Parkinson\u27s disease. [PDF]
BACKGROUND: Parkinson\u27s disease (PD) is characterized by selective degeneration of dopaminergic (DA) neurons of the substantia nigra pars compacta (SN) while neighboring ventral tegmental area (VTA) DA neurons are relatively spared.
Cai, Jingli+2 more
core +1 more source
ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher+5 more
wiley +1 more source