Neurooncol Adv - issue: 1 - volume: 2 - pages: vdaa068.

Ann Clin Transl Neurol - issue: 12 - volume: 7 - pages: 2538-2540.

Br J Dermatol - issue: - volume: - pages: bjd.19694.

The central pattern generator (CPG) for locomotion is a set of pacemaker neurons endowed with inherent bursting driven by the persistent sodium current (INaP). How they proceed to regulate the...
PLoS Biol - issue: 11 - volume: 18 - pages: e3000738.

In utero environment is crucial to ensure normal development of the fetus and to program metabolic health throughout the life. Beside macronutrients, the role of micronutrients, including vitamin D,...
FASEB J - issue: 11 - volume: 34 - pages: 14905-14919.

BACKGROUNDS: The incidence of germline mutations in the newly discovered cryptic exon (E1') of VHL gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or...
J Med Genet - issue: 11 - volume: 57 - pages: 752-759.

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and...
Am J Surg Pathol - issue: 10 - volume: 44 - pages: 1398-1405.

BACKGROUND: The '3PAs' syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX....
Eur J Endocrinol - issue: 4 - volume: 183 - pages: 369-379.

PURPOSE: Acromegaly is a rare disease due to growth hormone (GH)-secreting pituitary adenoma. GH and IGF-1 levels are usually congruent, indicating either remission or active disease; however, a...
Endocrine - issue: 1 - volume: 70 - pages: 134-142.

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and limbs...
Am. J. Surg. Pathol. - issue: 10 - volume: 44 - pages: 1398-1405.

The development of the cardiac outflow tract (OFT), which connects the heart to the great arteries, relies on a complex crosstalk between endothelial (ECs) and smooth muscle (SMCs) cells. Defects in...
eLife - issue: - volume: 9 - pages: e57603.

In our original publication by Sevy et al,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the rapid evolution of genomic diagnostic...
J. Neurol. Neurosurg. Psychiatry - issue: - volume: - pages: .

In utero environment is crucial to ensure normal development of the fetus and to program metabolic health throughout the life. Beside macronutrients, the role of micronutrients, including vitamin D,...
FASEB J - issue: - volume: in press - pages: .

Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations...
Nat Comm - issue: 11 - volume: 1 - pages: 4589.

The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of...
Eur J Paediatr Neurol - issue: - volume: 28 - pages: 214-220.

CONTEXT: First-generation somatostatin receptor ligands (fg-SRLs) represent the mainstay of medical therapy for acromegaly, but they provide biochemical control of disease in only a subset of...
J Clin Endocrinol Metab - issue: 9 - volume: 105 - pages: .

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: 3 - volume: 69 - pages: 695.

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined by the association of medullary thyroid...
Endocrine - issue: 3 - volume: 69 - pages: 496-503.

Neurosurgery - issue: 3 - volume: 87 - pages: E301-E302.

OBJECTIVE: Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss-of-function mutations of the calcium-sensing receptor gene, is the main differential diagnosis for primary...
Clin Endocrinol (Oxf) - issue: 3 - volume: 93 - pages: 248-260.