Results 51 to 60 of about 152,836 (291)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
, 2013 Without nonsense there is no sense. Without sense there is no nonsense. Without sense there is no sense. Without nonce there is no once. Without out end there is no begin in.
Albright, Daniel, Daniel Albright
core +3 more sources
FronteiraZO artigo busca contextualizar e analisar a entrevista concedida por Campos de Carvalho ao Jornal de Letras, em setembro de 1959. Na recepção à obra do autor, argumentos morais são empregados à guisa de juízo estético, positiva ou negativamente.
Mario Tommaso
doaj +1 more source
A Novel Mutation of PARK-2 Gene in a Patient with Early-onset Parkinson’s Disease
Oman Medical Journal, 2020 Between 3–5% of all patients with Parkinson’s disease (PD) have onset before the age of 40 years, which is likely related to genetic causes. Parkin gene mutations are the most common mutations, which are associated with autosomal recessive early-onset PD.
Tariq Alafifi +4 more
doaj +1 more source
Nonsense-mediated mRNA decay (NMD): a bifunctional mechanism in human physiology and disease [PDF]
, 2020 Publication: Fernandes R, Nogueira G, da Costa PJ, Pinto F, Romão L. Nonsense-Mediated mRNA Decay in Development, Stress and Cancer. Adv Exp Med Biol. 2019;1157:41-83.
Fernandes, Rafael, Romão, Luísa
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Nonsense on Stilts? – The Economic Analysis of HS2 [PDF]
, 2020 This title of this blog is based upon is upon Peter Self’s critical book on Cost-Benefit Analysis (CBA),Nonsense on Stilts: Econocrats and the Policy Process, that heavily criticised the use of the technique in the proceedings of the Roskill Commission ...
Budd, Leslie
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Inspired by the early Wittgenstein\u27s concept of nonsense (meaning that which lies beyond the limits of language), we investigate two different types of nonsense: formal nonsense and pragmatic nonsense.
Abrahão, Felipe S. +2 more
core +4 more sources
Nonsense of the existence and the 'sense' of the absurdity: Congenialities of Albert Camus' and Petar Sarić's creative proceeds [PDF]
Baština, 2013 The philosophy of existentialism achieved its greatest impact through Sartre's lectures Existentialism is Humanity. His philosophy, founded on the thesis on the tragic throw in the whirlpool of the existence, had great impact on the literary achievements
Jeftimijević-Mihajlović Marija
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