Publications by authors named "L Corrado"
Background/objectives: Axonal Charcot-Marie-Tooth disease type 2 (CMT2) accounts for 24% of Hereditary Motor/Sensory Peripheral Neuropathies. CMT2 type GG, due to four distinct heterozygous mutations in the Golgi brefeldin A resistant guanine nucleotide exchange factor 1 () gene (OMIM 606483), was described in seven cases from four unrelated families with autosomal dominant inheritance. It is characterized by slowly progressive distal muscle weakness and atrophy, primarily affecting the lower limbs.
View Article and Find Full Text PDFThis study uses Earth observation data to measure illegal activities and investigates possible relationships with local governments. We have collected satellite images, digital maps, and geospatial data for over a decade to detect potential illegal constructions in protected burned forest areas in Sardinia, Italy. We create a database of buildings erected in these protected areas and connect it to administrative data on local election results.
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- Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
- Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
- Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.
Intermediate CAG repeats worsen disease severity in amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
December 2024