Results 111 to 120 of about 279,319 (265)

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane   +43 more
wiley   +1 more source

Matthew D. Bondo, Part 3

open access: yes, 2008
Location: MontserradoRuntime: 0:35:53Categorized as pertaining to Diaspora, Hearings.The Truth and Reconciliation Commission of ...
Matthew D. Bondo
core  

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Tsunami Runup Survey Data From The Taan Fjord Landslide Event

open access: yesScientific Data
On 17 October 2015, a mountainside collapse at the terminus of Tyndall Glacier in southeast Alaska generated a landslide-triggered mega-tsunami. The landslide sent approximately 7.6 × 107 m3 of rock and glacial sediment into Taan Fjord, abruptly ...
Patrick J. Lynett   +8 more
doaj   +1 more source

Joshua Milton Blahyi, Part 4

open access: yes, 2008
Location: MontserradoRuntime: 0:14:08Categorized as pertaining to Diaspora, Hearings.The Truth and Reconciliation Commission of ...
Joshua Milton Blahyi
core  

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao   +7 more
wiley   +1 more source

Unknow Witness #2

open access: yes, 2008
Location: Maryland CountyRuntime:Categorized as pertaining to Diaspora, Hearings.The Truth and Reconciliation Commission of ...

core  

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone   +8 more
wiley   +1 more source

Avort versus Zămislire; între decizia profană și planul divin

open access: yesSociologie Românească, 2005
The main point of this essay is the contradiction between the legality of abortion as a secular human right and the Christian ethics according to which abortion is a deadly sin.
Robert Lazu
doaj  

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