Santorelli FM

References (11)

Title : Neutral Lipid Storage Diseases: clinical\/genetic features and natural history in a large cohort of Italian patients - Pennisi_2017_Orphanet.J.Rare.Dis_12_90
Author(s) : Pennisi EM , Arca M , Bertini E , Bruno C , Cassandrini D , D'Amico A , Garibaldi M , Gragnani F , Maggi L , Massa R , Missaglia S , Morandi L , Musumeci O , Pegoraro E , Rastelli E , Santorelli FM , Tasca E , Tavian D , Toscano A , Angelini C
Ref : Orphanet J Rare Dis , 12 :90 , 2017
Abstract :
PubMedSearch : Pennisi_2017_Orphanet.J.Rare.Dis_12_90
PubMedID: 28499397

Title : Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement - Missaglia_2017_Neuromuscul.Disord_27_481
Author(s) : Missaglia S , Maggi L , Mora M , Gibertini S , Blasevich F , Agostoni P , Moro L , Cassandrini D , Santorelli FM , Gerevini S , Tavian D
Ref : Neuromuscular Disorders , 27 :481 , 2017
Abstract :
PubMedSearch : Missaglia_2017_Neuromuscul.Disord_27_481
PubMedID: 28258942

Title : The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells - Pezzini_2017_Front.Mol.Neurosci_10_266
Author(s) : Pezzini F , Bianchi M , Benfatto S , Griggio F , Doccini S , Carrozzo R , Dapkunas A , Delledonne M , Santorelli FM , Lalowski MM , Simonati A
Ref : Front Mol Neurosci , 10 :266 , 2017
Abstract :
PubMedSearch : Pezzini_2017_Front.Mol.Neurosci_10_266
PubMedID: 28878621
Gene_locus related to this paper: human-PPT1

Title : Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia - Rinaldi_2015_JAMA.Neurol_72_561
Author(s) : Rinaldi C , Schmidt T , Situ AJ , Johnson JO , Lee PR , Chen KL , Bott LC , Fado R , Harmison GH , Parodi S , Grunseich C , Renvoise B , Biesecker LG , De Michele G , Santorelli FM , Filla A , Stevanin G , Durr A , Brice A , Casals N , Traynor BJ , Blackstone C , Ulmer TS , Fischbeck KH
Ref : JAMA Neurol , 72 :561 , 2015
Abstract :
PubMedSearch : Rinaldi_2015_JAMA.Neurol_72_561
PubMedID: 25751282

Title : Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms - Lo_2014_Exp.Neurol_261_518
Author(s) : Lo Giudice T , Lombardi F , Santorelli FM , Kawarai T , Orlacchio A
Ref : Experimental Neurology , 261 :518 , 2014
Abstract :
PubMedSearch : Lo_2014_Exp.Neurol_261_518
PubMedID: 24954637

Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612
Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM
Ref : Pediatr Dermatol , 31 :612 , 2014
Abstract :
PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612
PubMedID: 23756328
Gene_locus related to this paper: human-ABHD5

Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19
Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A
Ref : Orphanet J Rare Dis , 8 :19 , 2013
Abstract :
PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19
PubMedID: 23374165
Gene_locus related to this paper: human-PPT1

Title : Involvement of the mitochondrial compartment in human NCL fibroblasts - Pezzini_2011_Biochem.Biophys.Res.Commun_416_159
Author(s) : Pezzini F , Gismondi F , Tessa A , Tonin P , Carrozzo R , Mole SE , Santorelli FM , Simonati A
Ref : Biochemical & Biophysical Research Communications , 416 :159 , 2011
Abstract :
PubMedSearch : Pezzini_2011_Biochem.Biophys.Res.Commun_416_159
PubMedID: 22100646
Gene_locus related to this paper: human-PPT1

Title : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271
Author(s) : Simonati A , Tessa A , Bernardina BD , Biancheri R , Veneselli E , Tozzi G , Bonsignore M , Grosso S , Piemonte F , Santorelli FM
Ref : Pediatr Neurol , 40 :271 , 2009
Abstract :
PubMedSearch : Simonati_2009_Pediatr.Neurol_40_271
PubMedID: 19302939
Gene_locus related to this paper: human-PPT1

Title : Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis - Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154
Author(s) : Bonsignore M , Tessa A , Di Rosa G , Piemonte F , Dionisi-Vici C , Simonati A , Calamoneri F , Tortorella G , Santorelli FM
Ref : Eur J Paediatr Neurol , 10 :154 , 2006
Abstract :
PubMedSearch : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154
PubMedID: 16759889
Gene_locus related to this paper: human-PPT1

Title : A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient - Santorelli_1998_Biochem.Biophys.Res.Commun_245_519
Author(s) : Santorelli FM , Bertini E , Petruzzella V , Di Capua M , Calvieri S , Gasparini P , Zeviani M
Ref : Biochemical & Biophysical Research Communications , 245 :519 , 1998
Abstract :
PubMedSearch : Santorelli_1998_Biochem.Biophys.Res.Commun_245_519
PubMedID: 9571187
Gene_locus related to this paper: human-PPT1