Produzione Scientifica
Found 17 results
Filters: Author is Santorelli, F.M. [Clear All Filters]
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.,
, Human mutation, Volume 25, Number 5, p.506, (2005)
Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNALys gene,
, Biochemical Journal, Volume 387, Number 3, p.773-778, (2005)
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.,
, Human mutation., Volume 25, Number 2, p.222, (2005)
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts,
, Neurology, Volume 61, Number 4, p.534-537, (2003)
The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia,
, Functional Neurology, Volume 18, Number 2, p.83-87, (2003)
An additional family carrying a new atlastin mutation,
, Neurology, Volume 59, Number 12, p.2002-2005, (2002)
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia,
, Journal of Neurology, Volume 249, Number 2, p.200-205, (2002)
Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome,
, Molecular and Cellular Probes, Volume 16, Number 4, p.315-318, (2002)
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome,
, Human mutation, Volume 17, Number 4, p.348-349, (2001)
Respiratory chain defects in hereditary spastic paraplegias,
, Neuromuscular Disorders, Volume 11, Number 6-7, p.565-569, (2001)
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome,
, Neurology, Volume 56, Number 5, p.687-690, (2001)
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation,
, Neurology, Volume 55, Number 5, p.702-705, (2000)
Letter to the editor,
, Journal of Medical Screening, Volume 7, Number 3, p.167, (2000)
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome,
, American Journal of Medical Genetics, Volume 91, Number 2, p.138-140, (2000)
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.,
, Human mutation, Volume 16, Number 3, p.277, (2000)
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency,
, Neuromuscular Disorders, Volume 10, Number 6, p.450-453, (2000)
OXPHOS and mtDNA alterations in a family with spastic paraparesis,
, Acta Neurologica Scandinavica, Volume 101, Number 4, p.255-258, (2000)