Results 51 to 60 of about 308,172 (351)

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

open access: yesMolecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici   +8 more
wiley   +1 more source

Test–retest reliability of the Friedreich’s ataxia rating scale

open access: yesAnnals of Clinical and Translational Neurology, 2020
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey   +5 more
doaj   +1 more source

An unusual neurologic presentation of pediatric neuroinvasive West Nile virus infection: ophthalmoplegia

open access: yesThe Turkish Journal of Pediatrics, 2021
Background. West Nile virus (WNV) is an uncommon arbovirus infection and is usually asymptomatic in pediatric patients and due to its rarity is not very well known by clinicians. Case.
Senem Ayça   +3 more
doaj   +1 more source

Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]

open access: yes, 2008
Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas   +3 more
core   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

open access: yesMolecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak   +4 more
wiley   +1 more source

Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation

open access: yesTremor and Other Hyperkinetic Movements, 2016
No abstract necessary for Letters.
José L. Pedroso   +2 more
doaj   +1 more source

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

open access: yes, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C.   +4 more
core   +1 more source

Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia

open access: yesJournal of Integrative Neuroscience
The clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins ...
Mario Manto, Hiroshi Mitoma
openaire   +3 more sources

Tumor mutational burden as a determinant of metastatic dissemination patterns

open access: yesMolecular Oncology, EarlyView.
This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal   +4 more
wiley   +1 more source

Collaborative Efforts for Spinocerebellar Ataxia Research in the United States: CRC-SCA and READISCA

open access: yesFrontiers in Neurology, 2020
Spinocerebellar ataxias are progressive neurodegenerative disorders primarily affecting the cerebellum. Although the first disease-causing gene was identified nearly 30 years ago, there is no known cure to date, and only a few options exist for ...
Chih-Chun Lin   +4 more
doaj   +1 more source

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