Results 101 to 110 of about 361,954 (339)

Microendovascular Neural Recording from Cortical and Deep Vessels with High Precision and Minimal Invasiveness

open access: yesAdvanced Intelligent Systems, EarlyView.
Intravascular electroencephalography (ivEEG) using micro‐intravascular electrodes was developed. Cortical‐vein ivEEG showed a higher signal‐to‐noise ratio and finer spatial resolution of somatosensory evoked potentials (SEPs) than superior sagittal sinus ivEEG, and deep‐vein ivEEG captured clear visual evoked potentials.
Takamitsu Iwata   +15 more
wiley   +1 more source

Cystic hemangioblastoma of the brainstem

open access: yesJournal of Neurosciences in Rural Practice, 2010
ABSTRACTHemangioblastomas are very highly vascular neoplasm with benign characteristics and; in comparison to cerebellar hemangioblastoma; cases of cystic hemangioblastoma of the brain stem are rare with only a few case reports available in the literature.
Anand Kakani   +4 more
openaire   +3 more sources

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

The respiratory control mechanisms in the brainstem and spinal cord: integrative views of the neuroanatomy and neurophysiology

open access: yesJournal of Physiological Sciences, 2016
Respiratory activities are produced by medullary respiratory rhythm generators and are modulated from various sites in the lower brainstem, and which are then output as motor activities through premotor efferent networks in the brainstem and spinal cord.
K. Ikeda   +8 more
semanticscholar   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello   +7 more
wiley   +1 more source

Coma and brainstem death [PDF]

open access: yesMedicine, 2012
The diagnosis and management of the patient in coma demands rigorous clinical assessment that encompasses a meticulous approach to history-taking and systemic and neurological examination. Following immediate resuscitation and acute management, the level of consciousness must be assessed and evidence of meningism, brainstem or lateralizing neurological
openaire   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

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

open access: yesAnimal 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   +9 more
wiley   +1 more source

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