Results 151 to 160 of about 860,830 (359)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals 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
European Court of Human Rights : Milisavljević v. Serbia [PDF]
, 2017 The European Court of Human Rights has recently found that the Republic of Serbia has acted in breach of the right to freedom of expression by convicting a journalist for insult of a well-known human rights activist.
Voorhoof, Dirk
core +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals 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
The (Reform) Treaty of Lisbon: What’s in it? How Significant. Jean Monnet/Robert Schuman Paper Series Vol. 9 No. 1, January 2009 [PDF]
, 2009 [From the Introduction]. The European Union is currently based on the treaty framework which emerged as the Treaty of Nice entered into force in 2003 (European Union, 2003).
Laursen, Finn.
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Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants
Annals of Clinical and Translational Neurology, EarlyView.Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold +12 more
wiley +1 more source
The European Free Trade Association – 50 Years of Existence [PDF]
The European Free Trade Association (EFTA) is an intergovernmental organization set up for the promotion of free trade and economic integration to the benefit of its four Member States: Iceland, Liechtenstein, Norway and Switzerland.
Trocan, Laura Magdalena
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The effective assessment of clinical legal education [PDF]
, 2003 In January 2003, a new unit was established under the auspices of the Human Rights and Social Justice Research Institute of London Metropolitan University to deal with human rights cases from Russia (see Leach, 2003).
Leach, Philip
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SPG4 and Dementia: Expanding the Clinical Spectrum
Annals 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
Migraciones, 2016 This paper presents the criteria which, in accordance with the European Convention on Human Rights and the legal precedents set by the Court in Strasbourg, must be followed when the Spanish legislator develops norms regulating migratory policy and the ...
José Carlos Remotti Carbonell +1 more
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