The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016...
Brain Pathol. - issue: 1 - volume: 29 - pages: 18-27.

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

AIMS: To understand the opinions of children with type 1 diabetes about their everyday use of flash glucose monitoring. (FGM). METHODS: Children with type 1 diabetes using the FreeStyle Libre® FGM...
Prim Care Diabetes - issue: 1 - volume: 13 - pages: 63-70.

Prolactin-secreting tumors (prolactinomas) represent the most common pituitary tumor type, accounting for 47-66% of functional pituitary tumors. Prolactinomas are usually benign and controllable...
- issue: 1 - volume: 109 - pages: 57-69.

Background. Cell transplantation is in clinical development for the treatment of various ailments including acquired and inborn hepatic diseases. Detection and quantification of the donor cells after...
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Introduction: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as...
- issue: 3 - volume: 14 - pages: 179-192.

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1...
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BACKGROUND & AIMS: A generalized human pacemaking syndrome, chronic atrial and intestinal dysrhythmia (CAID) (OMIM 616201), is caused by a homozygous SGO1 mutation (K23E), leading to chronic...
Cell Mol Gastroenterol Hepatol - issue: 2 - volume: 7 - pages: 411-431.

INTRODUCTION: Amyloid transthyretin amyloidosis (ATTR) is a progressive and often fatal disease caused by the buildup of mutated (hereditary ATTR [hATTR]; also known as ATTR variant [ATTRv]) or normal...
Brain Behav - issue: 9 - volume: 9 - pages: e01371.

Amyloid - issue: sup1 - volume: 26 - pages: 20-21.

Amyloid - issue: sup1 - volume: 26 - pages: 27-28.

Skeletal myofibers are injured due to mechanical stresses experienced during physical activity, or due to myofiber fragility caused by genetic diseases. The injured myofiber needs to be repaired or...
Front Physiol - issue: - volume: 10 - pages: 828.

- issue: 1 - volume: 109 - pages: 57-69.

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- issue: 3 - volume: 14 - pages: 179-192.

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Dynamin 2 (DNM2) is a key protein of the endocytosis and intracellular membrane trafficking machinery. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopathy (CNM) and a knock-in...
Sci Rep - issue: 1 - volume: 9 - pages: 1580.

Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development...
Physiol Rep - issue: 10 - volume: 7 - pages: e14055.

PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We...
Genet. Med. - issue: 4 - volume: 21 - pages: 837-849.

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify...
Genet. Med. - issue: 3 - volume: 21 - pages: 553-563.