Results 291 to 300 of about 1,936,269 (327)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

The political economy of immigration and welfare state reform: a collection of comparative political and economic essays on human mobility and social protection

Fenwick, C.E.
openalex   +1 more source

Subsistence level and theory of the welfare state

, 1999
Thomas Eichner
openalex   +1 more source

UNH Joins State to Educate Child Welfare Workers [PDF]

, 2000
Keeler, Sharon
core   +1 more source

Positive Arithmetic of the Welfare State. [PDF]

CONDE-RUIZ, Jose Ignacio, GALASSO, Vincenzo   +1 more
core  

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Welfare States

2019
Contains fulltext : 209551pub.pdf (Publisher’s version ) (Closed access)
Woods, D.R., Schmid, J.
openaire   +2 more sources

Welfare state dynamics [PDF]

, 1999
No abstract.
openaire   +2 more sources