Search Results - "Massini, C"
-
1
Detailed imaging of abducens nerve anatomy using contrast-enhanced 3D-TOF MR angiography
Published in Clinical imaging (01-11-2021)“…Cranial nerves (CNs), particularly CN IV and VI are difficult to visualize with conventional MRI techniques, particularly within the cavernous sinus region…”
Get full text
Journal Article -
2
Acute Invasive Fungal Rhinosinusitis: A Comprehensive Update of CT Findings and Design of an Effective Diagnostic Imaging Model
Published in American journal of neuroradiology : AJNR (01-08-2015)“…Acute invasive fungal rhinosinusitis carries a high mortality rate. An easy-to-use and accurate predictive imaging model is currently lacking. We assessed the…”
Get full text
Journal Article -
3
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
Published in American journal of human genetics (03-05-2018)“…The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and…”
Get full text
Journal Article -
4
Tumor volume as a predictor of survival in advanced laryngeal cancer treated with total laryngectomy
Published in Head & neck (01-06-2023)“…Background Recent literature shows that tumor volume (TV) in T3 laryngeal squamous cell carcinoma (LSCC) is associated with response to radiation therapy. The…”
Get full text
Journal Article -
5
664P From past to present: Pompe disease, pseudodeficiency, and genetic challenges
Published in Neuromuscular disorders : NMD (01-10-2024)“…Pompe disease is a rare autosomal recessive disorder caused by mutations in GAA, leading to enzyme acid alpha-glucosidase deficiency. Diagnosis is challenging…”
Get full text
Journal Article -
6
362P Whole-body MRI reveals common and distinctive muscle involvement in “clinically asymptomatic” female carriers of pathogenic DMD variants
Published in Neuromuscular disorders : NMD (01-10-2024)“…DMD-carriers were traditionally considered asymptomatic given the X-linked recessive inheritance pattern of these diseases. Yet, it has recently been…”
Get full text
Journal Article -
7
281P Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: findings from an Argentine patient cohort
Published in Neuromuscular disorders : NMD (01-10-2024)“…A wide phenotypic spectrum exists among DMD patients, with genetic modifiers seen as a putative cause of this variability. The main aim was to evaluate the…”
Get full text
Journal Article -
8
Latent tubercolosis infection in the migrant population: an Italian surveillance experience
Published in European journal of public health (01-11-2024)“…Abstract Background The Special Reception Center (“Centro Accoglienza Straordinario” or CAS in Italian) concept was born in Italy in 2014 to receive the large…”
Get full text
Journal Article -
9
ABORDAJE MOLECULAR DE LAS DISTROFIAS MUSCULARES: CONFIRMACIÓN DIAGNÓSTICA Y SU ROL EN LA MEDICINA DE PRECISIÓN
Published in BAG. Journal of basic and applied genetics (01-09-2024)“…Las distrofias musculares (DM) son un grupo de enfermedades genéticas/hereditarias que causan degeneración muscular progresiva. La distrofia muscular de…”
Get full text
Journal Article -
10
An FD-BPM with adaptive mesh for longitudinally varying optical structures
Published in Optical and quantum electronics (01-10-1995)Get full text
Conference Proceeding Journal Article -
11
LA INTERPRETACIÓN DE DATOS DE NGS PARA ALCANZAR UN DIAGNÓSTICO EN PACIENTES CON DISTROFIA MUSCULAR
Published in BAG. Journal of basic and applied genetics (01-12-2022)“…Las distrofias musculares (DM) son un conjunto de enfermedades hereditarias poco frecuentes que ocasionan debilidad y degeneración progresiva del músculo…”
Get full text
Journal Article -
12
DISTROFIA MUSCULAR DE CINTURAS: DIAGNÓSTICO DIFERENCIAL DE DOS HERMANAS GEMELAS
Published in BAG. Journal of basic and applied genetics (01-12-2022)“…Las Distrofias Musculares (DM) son un grupo heterogéneo de enfermedades genéticas que causan degeneración y debilidad progresiva del músculo esquelético,…”
Get full text
Journal Article -
13
LA IMPORTANCIA DE LOS ESTUDIOS MOLECULARES PARA ALCANZAR UN DIAGNÓSTICO DIFERENCIAL DE DISTROFIAS MUSCULARES
Published in BAG. Journal of basic and applied genetics (01-12-2022)“…Las distrofias musculares (DM) son un conjunto de enfermedades hereditarias poco frecuentes. Los síntomas clínicos de estas DM se solapan entre sí,…”
Get full text
Journal Article -
14
MODIFICADORES MOLECULARES QUE ALTERAN LA PROGRESIÓN DE LA ENFERMEDAD EN PACIENTES CON DISTROFINOPATÍA
Published in BAG. Journal of basic and applied genetics (01-12-2022)“…Existe heterogeneidad clínica entre pacientes con distrofia muscular de Duchenne (DMD), evidenciándose una amplia variabilidad en la edad de comienzo de los…”
Get full text
Journal Article -
15
REPORTE DE UN CASO DE MIOPATÍA DE BETHLEM ASOCIADO AL GEN COL6A3
Published in BAG. Journal of basic and applied genetics (01-12-2022)“…Las distrofias musculares (DM) son un conjunto de enfermedades hereditarias poco frecuentes que causan debilidad y degeneración progresiva del músculo…”
Get full text
Journal Article -
16
ACTH-(1-24) restores blood pressure in acute hypovolaemia and haemorrhagic shock in humans
Published in European journal of clinical pharmacology (01-09-1987)Get full text
Journal Article -
17
Simple Method to Improve the Effectiveness of Brain Retrograde Perfusion During Total Circulatory Arrest
Published in Journal of cardiac surgery (01-05-1997)Get full text
Journal Article -
18
Problems of scarlet fever; etiology and milk epidemics
Published in Deutsches Archiv fur klinische Medizin (1953)Get more information
Journal Article -
19
Isolated atresia of the aortic arch in a 65-year-old man. Surgical treatment and review of published reports
Published in British Heart Journal (01-03-1982)Get full text
Journal Article -
20
Phosphorylated STAT5 represents a new possible prognostic marker in Hodgkin lymphoma
Published in American journal of clinical pathology (01-03-2008)“…An important pathogenetic mechanism in Hodgkin lymphoma (HL) is the interaction between the neoplastic and reactive cells mediated by a complex network of…”
Get full text
Journal Article