Results 41 to 50 of about 2,234,564 (310)

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas   +39 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

El ministerio del diácono en una Iglesia ministerial

open access: yesEstudios Eclesiásticos, 1987
El diaconado permanente no ha sido implementado en las diócesis como se esperaba en el Concilio Vaticano II. En este Concilio se restableció el ministerio no sin grandes interrogantes teológicos y pastorales que aún hoy no encuentran fáciles soluciones ...
Elías Royón Lara
doaj  

Bacteremia caused by an Acinetobacter junii strain harboring class 1 integron and diverse DNA mobile elements [PDF]

open access: yes, 2014
INTRODUCTION: Infections caused by Acinetobacter junii are rarely reported. However, some outbreaks of septicemia in neonates and pediatric oncology patients, as well as meningitis, peritonitis, and ocular infection have been described.
Almuzara, Marisa   +7 more
core   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini   +28 more
wiley   +1 more source

El ministerio a la luz de las liturgias de ordenación

open access: yesEstudios Eclesiásticos, 1986
Tras la culminación del Concilio Vaticano II, numerosos estudios se cuestionaron el concepto y la función de los sacerdotes. Estos interrogantes se han abordado desde los campos de la patrística, desde la teología sistemática y desde los libros del Nuevo
Antoni M. Tortras
doaj  

Monadnocks, Divides and Ozark Physiography [PDF]

open access: yes, 1965
Copia digital. Madrid : Ministerio de Educación, Cultura y Deporte.
Quinn, James Harrison
core   +171 more sources

Multiple symptoms of total ozone recovery inside the Antarctic vortex during austral spring [PDF]

open access: yes, 2017
The long-term evolution of total ozone column inside the Antarctic polar vortex is investigated over the 1980-2016 period. Trend analyses are performed using a multilinear regression (MLR) model based on various proxies (heat flux, QBO, solar flux, AAO ...
Claud, Chantal   +8 more
core   +4 more sources

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

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