Lista de obras -

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

Acromegaly and anaplastic astrocytoma: coincidence or pathophysiological relation?

artículo científico publicado en 2008

Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology

artículo científico publicado en 2020

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

artículo científico publicado en 2016

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Confusing genes: a patient with MEN2A and Cushing's disease

artículo científico publicado en 2013

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Expression of guanylyl cyclase-B (GC-B/NPR2) receptors in normal human fetal pituitaries and human pituitary adenomas implicates a role for C-type natriuretic peptide.

artículo científico publicado en 2012

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

artículo científico publicado en 2014

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

artículo científico publicado en 2016

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

artículo científico publicado en 2015

Granulation pattern, but not GSP or GHR mutation, is associated with clinical characteristics in somatostatin-naive patients with somatotroph adenomas

artículo científico publicado en 2013

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

artículo científico publicado en 2017

MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas

artículo científico publicado en 2012

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

artículo científico publicado en 2009

Quantitative patterns of motor cortex proteinopathy across ALS genotypes

artículo científico publicado en 2020

Rathke's cleft cyst

artículo científico publicado en 2014

What are the markers of aggressiveness in prolactinomas? Changes in cell biology, extracellular matrix components, angiogenesis and genetics

artículo científico publicado en 2007

Whole-exome sequencing studies of nonfunctioning pituitary adenomas

artículo científico publicado en 2013

Lista de obras de

A comprehensive screening of copy number variability in dementia with Lewy bodies

Acromegaly and anaplastic astrocytoma: coincidence or pathophysiological relation?

Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Confusing genes: a patient with MEN2A and Cushing's disease

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Expression of guanylyl cyclase-B (GC-B/NPR2) receptors in normal human fetal pituitaries and human pituitary adenomas implicates a role for C-type natriuretic peptide.

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Granulation pattern, but not GSP or GHR mutation, is associated with clinical characteristics in somatostatin-naive patients with somatotroph adenomas

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

Quantitative patterns of motor cortex proteinopathy across ALS genotypes

Rathke's cleft cyst

What are the markers of aggressiveness in prolactinomas? Changes in cell biology, extracellular matrix components, angiogenesis and genetics

Whole-exome sequencing studies of nonfunctioning pituitary adenomas