Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Enrico Saracchi"'
Autor:
Roberta Sestini, Jacopo C. DiFrancesco, Laura Papi, Elena Sala, Enrico Saracchi, Martino Bolognesi, Federica Cossu, Silvana Mariani, Carlo Ferrarese
Publikováno v:
Epileptic Disorders. 16:132-137
Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7afb8002520a2b83e570c7e977d164e5
https://doi.org/10.1684/epd.2014.0647
https://doi.org/10.1684/epd.2014.0647
Autor:
Carlo Ferrarese, Monica Musarra, Patrizia Tarantino, Enrico Saracchi, Laura Brighina, Monica Gagliardi, Federico Ferri, Sabrina Morzenti, Mirko Patassini, Grazia Annesi
Publikováno v:
Neurodegenerative Diseases. 14:133-138
Background: Idiopathic basal ganglia calcification (IBGC), also known as Fahr's disease, is a rare disorder characterized by widespread cerebral calcifications, an autosomal dominant pattern of inheritance and clinical and genetic heterogeneity. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dcc68f062095fdfe75f17ba7387d27d
https://doi.org/10.1159/000365216
https://doi.org/10.1159/000365216
Autor:
Francesca Novara, Enrico Saracchi, Paolo Remida, Barbara Frigeni, David T. Winkler, Martino Bolognesi, Orsetta Zuffardi, Giuseppe Isimbaldi, Federica Cossu, Markus Tolnay, Roberta Gioia, Simona Andreoni, Carlo Ferrarese, Jacopo C. DiFrancesco, Antonella Forlino, Tiziana Stellato
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is an adult-onset disorder caused by C-terminal heterozygous frameshift (fs) mutations in the human 3'-5' DNA exonuclease TREX1. Hereditary systemic angiopathy (HSA) is considered a variant of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554dba2097f9c6f7c34364c93f1fc56a
http://hdl.handle.net/10281/141200
http://hdl.handle.net/10281/141200
Autor:
Marianna Castelli, D Cereda, Carlo Ferrarese, L. Marzorati, Enrico Saracchi, Maria T. Bassi, Mirko Patassini, Ildebrando Appollonio, Erika Brighina, Laura Brighina
Publikováno v:
Amyotrophic lateral sclerosisfrontotemporal degeneration. 15(1-2)
Extensive CSF and blood tests were normal except for elevated serum alpha-fetoprotein (AFP) levels (25 ng/l, n.v. 7 ng/l). Nerve conduction stud-ies showed a motor axonal neuropathy; needle EMG examination demonstrated diffuse fi brillations and enl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b7e0d8294b56b41fdb2139ad954407
https://pubmed.ncbi.nlm.nih.gov/24533459
https://pubmed.ncbi.nlm.nih.gov/24533459
Autor:
Enrico Saracchi
Publikováno v:
Aging and Disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c66cfa1947d34fa52ee666e5b1a0965
https://doi.org/10.14336/ad.2014.050027
https://doi.org/10.14336/ad.2014.050027
Autor:
Enrico Saracchi, Laura Melchionda, Chiara Riva, Gessica Sala, Laura Brighina, G Stefanoni, A Arosio, Silvia Fermi, Carlo Ferrarese
Publikováno v:
Brain research. 1546
Chaperone-mediated autophagy (CMA) impairment is recognized to play a pathogenetic role in Parkinson's disease (PD). A reduced expression of lysosomal-associated membrane protein (lamp) 2A and heat shock cognate (hsc) 70 protein, the two key regulato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f406b8e492e621527831a22c767ca2e
https://pubmed.ncbi.nlm.nih.gov/24361989
https://pubmed.ncbi.nlm.nih.gov/24361989
Publikováno v:
Aging and disease. 5(1)
Parkinson’s disease is a chronic neurodegenerative disorder leading to progressive motor impairment affecting more than 1% of the over-65 population. In spite of considerable progress in identifying the genetic and biochemical basis of PD, to date
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c40548d5e3f7398b99688b7ed8d9627f
https://pubmed.ncbi.nlm.nih.gov/24490114
https://pubmed.ncbi.nlm.nih.gov/24490114
Autor:
Enrico Saracchi, Stefano Goldwurm, Silvia Fermi, Chiara Riva, Carlo Ferrarese, Laura Brighina, Francesca Bertola
Publikováno v:
Neurobiology of Aging
Generation of reactive oxygen species during dopamine (DA) oxidation could be one of the factors leading to the selective loss of nigral dopaminergic neurons in Parkinson’s disease (PD). Vesicular monoamine transporter type 2 (VMAT2) proteins in ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9b9f4aed067e6ffa353069d5e04461
http://hdl.handle.net/10281/44141
http://hdl.handle.net/10281/44141
Autor:
Franco Carrara, Jacopo C. DiFrancesco, L Brighina, Massimo Zeviani, L. Marzorati, Carlo Ferrarese, N. A. Curtò, Enrico Saracchi, Costanza Lamperti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2e4ab653d1e1cb5ca72620c2ab09f4
http://hdl.handle.net/10281/32836
http://hdl.handle.net/10281/32836
Autor:
Barbara Frigeni, M. Brioschi, L. Marzorati, Enrico Saracchi, Carlo Ferrarese, Lorenzo Fumagalli, L Brighina, Lucio Tremolizzo, Jacopo C. DiFrancesco, N. A. Curtò, Maria Luisa Piatti, G Costantino
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is often related to the A3243G mutation of the mitochondrial DNA, accounting for about 80% of typical cases, with a relevant phenotypic variability. Hemorrhagic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202217555c6b46922f1ea0f20f0a997f
http://hdl.handle.net/10281/33170
http://hdl.handle.net/10281/33170