Results 51 to 60 of about 4,915 (246)

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

Investigating Built Environment Indicators to Develop a Local Walkability Index

open access: yesJournal of Contemporary Urban Affairs, 2021
Many studies have been conducted over the last 20 years to determine and measure factors that affect the walkability of city streets. Walkability is an essential factor in deciding whether a city is green or sustainable.
Menna Tarek   +3 more
doaj  

Identifying appropriate land-use mix measures for use in a national walkability index

open access: yesJournal of Transport and Land Use, 2018
Walkability indices can guide planning and policy for more sustainable and liveble cities. Land-use mix is an important component of walkability that can be measured in a number of ways.
Suzanne Mavoa   +6 more
doaj   +1 more source

Walkability index for the city of Bogotá

open access: yesRevista de Arquitectura (Bogotá), 2019
Resumen La movilidad peatonal es un aspecto recurrente en los discursos de la ciudad actual. Se espera que en las ciudades se generen espacios urbanos que fomenten la caminabilidad y, de esta manera, se promueva la reducción de la movilidad vehicular y la recuperación de la calidad ambiental, a fin de mejorar la calidad de vida de los ciudadanos.
Julián Alberto Gutiérrez-López   +2 more
openaire   +1 more source

Walkability Index of Kampung Madras Commercial Area

open access: yesARSITEKTURA, 2020
<p><em>In most Indonesian cities, people tend to drive or using other modes than to walk. Recent studies revealed that this happened because the lack of walking infrastructure and environment. Kampung Madras, formerly known as ‘Kampung Keling’ is a commercial area located near the city center and easily can be reached by various modes of ...
openaire   +2 more sources

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

Measuring Urban Walkability Index for the Town Centre of Petaling Jaya

open access: yesMalaysia Journal of Invention and Innovation
Walkability has been introduced as one of the newest elements in supporting green neighbourhood. Various studies have been conducted to identify the built environment factors that influences people’s decision to walk.
Ishak Che Abdullah   +4 more
doaj   +2 more sources

Developing a Walkability Index for Built Environment and its Applications at Different Spatial Levels [PDF]

open access: yesمجلة جامعة النجاح للأبحاث العلوم الطبيعية
Walking is being widely recommended by the mainstream research about sustainable development as a preferable commuting mode for health, economic and environmental reasons.
Emad Dawwas, Ayah Helal
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling   +16 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

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