Results 251 to 260 of about 14,145 (312)

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan, Praveen Velammal, Kanmani Muthiah, Madhu Jatty, Christopher Adams   +4 more
wiley   +1 more source

The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta, Augusto J. Mendes, Valentina Garibotto, Cecilia Boccalini, Aurelien Lathuiliere, Innocenzo Rainero, Elisa Rubino, Henrik Zetterberg, Nicholas J. Ashton, Federica Ribaldi, Giovanni B. Frisoni, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source

Lost in translation? Jáchym Topol's The Devil's Workshop and its local and transnational reader. [PDF]

Open Res Eur
Ščasná B.
europepmc   +1 more source

'Singapore on Thames' Metropolitan Dreams and Planning Regimes. [PDF]

Oxf J Leg Stud
Lim J.
europepmc   +1 more source

Land expropriation, litigation, and reinterpretation of space in the genesis of the zoobotanical park of Museu Paraense Emílio Goeldi, 1895-1941. [PDF]

Hist Cienc Saude Manguinhos
Leal D, Sanjad N.
europepmc   +1 more source

The European Communities/European Union and the Search for a European Education

openaire   +1 more source

European citizenship; How European are young Europeans expected to be and how European are they in fact?

, 1993
openaire   +1 more source