Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

SL Roberds, F Leturcq, V Allamand, F Piccolo… - Cell, 1994 - cell.com
Adhalin, the 50 kDa dystrophin-associated glycoprotein, is deficient In skeletal muscle of
patients having severe childhood autosomal recessive muscular dystrophy (SCARMD). In …

Limb-girdle muscular dystrophy in the United States

SA Moore, CJ Shilling, S Westra, C Wall… - … of Neuropathology & …, 2006 - academic.oup.com
Limb-girdle muscular dystrophy (LGMD) has been linked to 15 chromosomal loci, 7
autosomal-dominant (LGMD1A to E) and 10 autosomal-recessive (LGMD2A to J). To …

Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb–girdle muscular dystrophies

F Piccolo, SA Moore, GC Ford… - Annals of …, 2000 - Wiley Online Library
Dysferlin has recently been identified as a novel gene involved in limb–girdle muscular
dystrophy type 2B (LGMD2B) and its allelic disease, Miyoshi myopathy. The predicted …

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

P Dincer, F Leturcq, I Richard, F Piccolo… - Annals of Neurology …, 1997 - Wiley Online Library
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically
heterogenous group of diseases involving at least six different loci. Five genes have already …

Brachytherapy or external beam radiotherapy as a boost in locally advanced cervical cancer: a Gynaecology Study Group in the Italian Association of Radiation and …

M Campitelli, R Lazzari, F Piccolo, P Ferrazza… - International Journal of …, 2021 - ijgc.bmj.com
This review analyzes the experience and trends in external beam radiotherapy for delivering
a boost in locally advanced cervical cancer, identifying whether radiation therapy modalities …

[HTML][HTML] Alkali activation of metallurgical slags: Reactivity, chemical behavior, and environmental assessment

I Lancellotti, F Piccolo, K Traven, M Češnovar… - Materials, 2021 - mdpi.com
Alkali-activated materials (AAMs) represent a promising alternative to conventional building
materials and ceramics. Being produced in large amounts as aluminosilicate-rich secondary …

[HTML][HTML] Synthesis and characterization of biochar-based geopolymer materials

F Piccolo, F Andreola, L Barbieri, I Lancellotti - Applied Sciences, 2021 - mdpi.com
The aim of this research is to evaluate the possibility to realize alkali-activated materials
exploiting biochar, a secondary raw material coming from pyrolysis/gasification processes …

Newborn preference for a new face vs. a previously seen communicative or motionless face

M Cecchini, E Baroni, C Di Vito, F Piccolo… - Infant Behavior and …, 2011 - Elsevier
Newborn infants prefer to look at a new face compared to a known face (still-face). This
effect does not happen with the mother-face. The newborns could be attracted by the mother …

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

K Kobuke, F Piccolo, KW Garringer… - Human molecular …, 2008 - academic.oup.com
Limb-girdle muscular dystrophy type 2D (LGMD2D) is caused by autosomal recessive
mutations in the α-sarcoglycan gene. An R77C substitution is the most prevalent cause of …

[HTML][HTML] Antibacterial properties and cytotoxicity of 100% waste derived alkali activated materials: slags and stone wool-based binders

C Sgarlata, G Dal Poggetto, F Piccolo… - Frontiers in …, 2021 - frontiersin.org
In this study we compare the leaching behavior and the antibacterial and cytotoxic
properties of 100% slag or stone wool derived alkali activated materials. The antibacterial …