MMG PUBLICATIONS

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Results: 2262  publications found.

Macagno, N.  et al. 2019

Grading of meningeal solitary fibrous tumors/hemangiopericytomas: analysis of the prognostic value of the Marseille Grading System in a cohort of 132 patients

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.


Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study

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.


Vergier, J.  et al. 2019

Evaluation of flash glucose monitoring after long-term use: A pediatric survey

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.


Olarescu, NC.  et al. 2019

Aggressive and Malignant Prolactinomas

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.


Lombard, CA.  et al. 2019

Detection of Human Microchimerism following Allogeneic Cell Transplantation Using Droplet Digital PCR

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...
- issue: - volume: - pages: .


Sahakian, N.  et al. 2019

Clinical management of difficult to treat macroprolactinomas

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.


Frullanti, E.  et al. 2019

Analysis of the Phenotypes in the Rett Networked Database

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...
- issue: - volume: - pages: .


Piche, J.  et al. 2019

Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TPF-beta Signaling and Epigenomics

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.


Gertz, MA.  et al. 2019

Advances in the treatment of hereditary transthyretin amyloidosis: A review

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.


Dasgupta, NR.  et al. 2019

Treatment of ATTR cardiomyopathy with a TTR specific antisense oligonucleotide, inotersen

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


Benson, MD.  et al. 2019

Inotersen treatment for ATTR amyloidosis

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


Bittel, DC.  et al. 2019

Contribution of Extracellular Vesicles in Rebuilding Injured Muscles

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.


Olarescu, NC.  et al. 2019

Aggressive and Malignant Prolactinomas

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


Lombard, CA.  et al. 2019

Detection of Human Microchimerism following Allogeneic Cell Transplantation Using Droplet Digital PCR

- issue: - volume: - pages: .


Sahakian, N.  et al. 2019

Clinical management of difficult to treat macroprolactinomas

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


Frullanti, E.  et al. 2019

Analysis of the Phenotypes in the Rett Networked Database

- issue: - volume: - pages: .


Fongy, A.  et al. 2019

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

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.


Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

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.


Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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.


Valence, S.  et al. 2019

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

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.