REVIEW
|
doi:10.20944/preprints202001.0353.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
chromothripsis; structural variants; DNA-repair; DNA-repair disorders; DNA-double strand breaks (DSBs); ataxia telangiectasia mutated (ATM); ataxia-telangiectasia and Rad3-related (ATR); TP53; micronuclei; chromosome pulverization.
Online: 29 January 2020 (11:58:58 CET)
REVIEW
|
doi:10.20944/preprints202404.0949.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Hereditary Hemorrhagic Telangiectasia; Arteriovenous malformations; Pathogenesis; Therapeutics.
Online: 15 April 2024 (10:42:19 CEST)
ARTICLE
|
doi:10.20944/preprints202402.0774.v1
Subject:
Medicine And Pharmacology,
Otolaryngology
Keywords:
hereditary hemorrhagic telangiectasia; rhinology; epistaxis
Online: 14 February 2024 (05:30:42 CET)
ARTICLE
|
doi:10.20944/preprints202402.1303.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Friedreich ataxia; etravirine; treatment; safety; efficacy
Online: 23 February 2024 (08:29:52 CET)
REVIEW
|
doi:10.20944/preprints202111.0216.v1
Online: 12 November 2021 (11:37:40 CET)
REVIEW
|
doi:10.20944/preprints202403.0494.v1
Subject:
Medicine And Pharmacology,
Dermatology
Keywords:
xanthone, telangiectasia, rosacea, vascular disorders, cosmetics, dermatology, blood vessels
Online: 8 March 2024 (06:25:27 CET)
REVIEW
|
doi:10.20944/preprints202312.0428.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Ataxia; cerebellum; therapy
Online: 6 December 2023 (14:38:29 CET)
ARTICLE
|
doi:10.20944/preprints202403.0400.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
Spinocerebellar ataxia type 3; ataxin-3; p62/sequestosome-1; autophagy; autophagy impairment; co-localized aggregation
Online: 7 March 2024 (08:06:54 CET)
ARTICLE
|
doi:10.20944/preprints202309.1287.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
cerebellar ataxia; cytoplasmic ATM; synaptic pathology
Online: 19 September 2023 (15:15:29 CEST)
REVIEW
|
doi:10.20944/preprints202306.1058.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Vertigo; dizziness; bedside testing; HINTS; STANDING; truncal ataxia
Online: 14 June 2023 (14:35:25 CEST)
ARTICLE
|
doi:10.20944/preprints202111.0066.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Leukodystrophy; Ataxia; Parkinson’s disease; HARS2, LARS2; TWNK; ERAL1; ClpB
Online: 3 November 2021 (08:40:03 CET)
ARTICLE
|
doi:10.20944/preprints202306.0208.v1
Subject:
Medicine And Pharmacology,
Pharmacology And Toxicology
Keywords:
cerebellum; edaravone; mitochondria; neurodegeneration; spinocerebellar ataxia type 1
Online: 2 June 2023 (14:01:57 CEST)
ARTICLE
|
doi:10.20944/preprints202008.0618.v1
Subject:
Medicine And Pharmacology,
Orthopedics And Sports Medicine
Keywords:
coronavirus; COVID-19; neurology; movement disorders; ataxia; Parkinson disease
Online: 27 August 2020 (12:24:18 CEST)
ARTICLE
|
doi:10.20944/preprints202310.0857.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
endoglin; brain arteriovenous malformation; hereditary hemorrhagic telangiectasia; angiogenesis; vascular disorder; magnetic resonance angiography
Online: 13 October 2023 (08:21:23 CEST)
REVIEW
|
doi:10.20944/preprints202304.1118.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
KCNA1; Kv1.1; epilepsy; episodic ataxia; myokymia; SUDEP; respiration; genetic modifiers; musculoskeletal; nystagmus
Online: 28 April 2023 (04:59:32 CEST)
ARTICLE
|
doi:10.20944/preprints202308.2186.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Acircularity index; idiopathic macular telangiectasia type 2; optical coherence tomography angiography; optic disc vascular density; retinal vascular density
Online: 1 September 2023 (03:37:18 CEST)
REVIEW
|
doi:10.20944/preprints202207.0099.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
mass spectrometry; substrate-trapping assay; BioID; POLDIP2; LRPPRC; GRSF1; PNPT1; MTIF2; ataxia
Online: 6 July 2022 (15:26:30 CEST)
ARTICLE
|
doi:10.20944/preprints202109.0401.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
AMPK; TOR Complex I; mitochondria; FMR1; Fragile X-associated Tremor/Ataxia Syndrome (FXTAS); CGG trinucleotide repeat
Online: 23 September 2021 (11:10:47 CEST)
ARTICLE
|
doi:10.20944/preprints202012.0054.v1
Subject:
Computer Science And Mathematics,
Algebra And Number Theory
Keywords:
Patterns recognition; Machine learning; Hereditary Ataxia diseases; K-Nearest Neighbors; Multi Layer Perceptron; Ensemble Classification Trees; SVM.
Online: 2 December 2020 (09:33:15 CET)
ARTICLE
|
doi:10.20944/preprints202105.0021.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
PRLTS3; Release of mtDNA and mtRNA; cGAS-STING; Leukodystrophy; Ataxia; Mitochondrial Amino Acid tRNA Synthetases; TWINKLE; POLG; MTRNR1
Online: 4 May 2021 (14:08:18 CEST)
ARTICLE
|
doi:10.20944/preprints202007.0477.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Autism; Schizophrenia; Mental Depression; Ataxia; Fragile X; Parkinson’s disease; Mitochondria; Genes’ expression; Tissues; neurological disorders; nervous systems disorders
Online: 21 July 2020 (11:07:07 CEST)
ARTICLE
|
doi:10.20944/preprints202403.0571.v1
Subject:
Medicine And Pharmacology,
Other
Keywords:
Cerebellar ataxia neuronopathy and vestibular areflexia syndrome (CANVAS); RFC1; genetic testing; genetic diagnostics, fluorescent PCR; repeat-primed PCR; repeat-expansion; fragment length analysis
Online: 11 March 2024 (05:36:41 CET)
ARTICLE
|
doi:10.20944/preprints202303.0323.v1
Subject:
Engineering,
Bioengineering
Keywords:
Multiscale Sample Entropy; Refine Composite Multiscale Entropy; Cerebellar Ataxia; Parkinson’s disease; Trunk acceleration time series; Complexity index; Gait variability; Gait complexity; Gait pattern; Movement disorders
Online: 17 March 2023 (10:11:42 CET)
ARTICLE
|
doi:10.20944/preprints202008.0470.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Amyotrophic Lateral Sclerosis (ALS); Fronto-Temporal-Lobar-Dementia; Tauopathies; synaptic plasticity; long-term potentiation; spatial learning; inositol signaling; neurexin; K-homology RNA-binding domain; Fragile-X-associated Tremor-Ataxia syndrome
Online: 21 August 2020 (04:39:19 CEST)
REVIEW
|
doi:10.20944/preprints202208.0383.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Calabria; Italy; neurodegenerative diseases; Alzheimer’s disease; Frontotemporal dementia; Par-kinson’s disease; Niemann Pick type C disease; Spino-cerebellar ataxia; Creutzfeldt–Jakob disease; Gerstmann Straussler Scheincker disease
Online: 22 August 2022 (11:23:49 CEST)