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21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features

artículo científico publicado el 24 de febrero de 2011

A novel case of inclusion body myositis and myasthenia gravis

artículo científico publicado en 2019

Adult spinal cord ependymal layer: a promising pool of quiescent stem cells to treat spinal cord injury.

artículo científico publicado en 2013

C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy.

artículo científico publicado en 2017

C5aR agonist enhances phagocytosis of fibrillar and non-fibrillar Aβ amyloid and preserves memory in a mouse model of familial Alzheimer's disease

scientific article published on 06 December 2019

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

scientific article published on 20 December 2018

Gene variants of adhesion molecules act as modifiers of disease severity in MS.

artículo científico publicado en 2017

Gene variants of adhesion molecules predispose to MS: A case-control study

article

Generation of an ABCG2(GFPn-puro) transgenic line--a tool to study ABCG2 expression in mice.

artículo científico publicado en 2009

Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy.

artículo científico publicado en 2016

Pax6 is expressed in subsets of V0 and V2 interneurons in the ventral spinal cord in mice.

artículo científico publicado en 2013

Pharmacological Stimulation of Phagocytosis Enhances Amyloid Plaque Clearance; Evidence from a Transgenic Mouse Model of ATTR Neuropathy

artículo científico publicado en 2017

SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.

artículo científico publicado en 2009

Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain.

artículo científico publicado en 2018

Sox1 is required for the specification of a novel p2-derived interneuron subtype in the mouse ventral spinal cord

scientific journal article

Sox1 maintains the undifferentiated state of cortical neural progenitor cells via the suppression of Prox1-mediated cell cycle exit and neurogenesis

artículo científico publicado en 2011

The role of complement in ATTR amyloidosis: a new therapeutic avenue?

artículo científico publicado en 2015

Vsx1 Transiently Defines an Early Intermediate V2 Interneuron Precursor Compartment in the Mouse Developing Spinal Cord.

artículo científico publicado en 2016