Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Roberto Di Fabio"'
Autor:
Federica Morani, Filippo M. Santorelli, Roberto Di Fabio, Eugenia Storti, Francesco Pierelli, Alessandra Tessa
Introduction: The hereditary spastic paraplegias (HSPs), a heterogeneous group of inherited disorders whose main clinical feature is progressive lower limb spasticity, have been reclassified following the cloning of genes associated with familial cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95f1101d8f5dccc72616047e212f6d2
http://hdl.handle.net/11568/1003745
http://hdl.handle.net/11568/1003745
Autor:
Carlo Casali, Laura Cursi, Alessandra Tessa, Martina Balestri, Filippo M. Santorelli, Francesco Pierelli, Enrico Bertini, Roberto Di Fabio
Publikováno v:
The Cerebellum. 11:526-530
Spinocerebellar ataxia type 2 (SCA2) is a late-onset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s. Pediatric onset is less common and usu
Autor:
Imerio Angeloni, Carlo Casali, Nicola Vanacore, Francesco Pierelli, Alberto Pierallini, Elisabetta Giugni, Rita Vadalà, Roberto Di Fabio
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 36:740-744
Background:It has been proposed that the patent foramen ovale (PFO) may be associated with migraine, in particular migraine with aura. However, it is not clear whether paradoxical embolism triggers crises of headache. Cerebral embolization is provoke
Autor:
Francesco Pierelli, Carlo Casali, Francesca Piccolo, Alessandra Tessa, Umberto Sabatini, Giovanna Comanducci, Roberto Di Fabio, Filippo M. Santorelli, Teresa de Berardinis
We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and neuroi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b943cd5258d801441b15951afe0939
http://hdl.handle.net/11588/479360
http://hdl.handle.net/11588/479360
Autor:
Liliana Pestillo, Roberto Di Fabio, Claudio Colonnese, Francesco Pierelli, Filippo M. Santorelli
Publikováno v:
BMC Neurology
Background: The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a53d684d51cb42ca7db6316946783e2
http://hdl.handle.net/11573/806491
http://hdl.handle.net/11573/806491
Autor:
Ludovico Lispi, Alessandra Dentini, Nicoletta Locuratolo, Andrea Matrigale, Francesco Pierelli, Francesco Fattapposta, Filippo M. Santorelli, Claudio Castagnoli, Roberto Di Fabio
The nerve conduction characteristics of adults with idiopathic pes cavus/hammer toes have not been studied extensively. Among 2048 out-patients (59.5 ± 13.9 years) referring to a laboratory of Neurophysiology in Rome, we recruited 18 patients with i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3856725362584a963716e018aa292e9c
http://hdl.handle.net/11573/810250
http://hdl.handle.net/11573/810250
Publikováno v:
Neurological Sciences. 35:105-107
Achondroplasia is a bone growth disorder, with an estimated prevalence of 0.36–0.60 per 10,000 live births, caused by impaired endochondral bone formation which leads to disproportionate short stature [1]. The clinical features, such as small arms
Autor:
Carlo Casali, Christian Marcotulli, Luca Leonardi, Francesco Pierelli, Alessandra Tessa, Eugenia Storti, Roberto Di Fabio, Filippo M. Santorelli
Pathogenic mutations in CYP7B1 account for SPG5, an autosomal recessive hereditary spastic paraplegia characterized by a complex phenotype including visual problems and cerebellar dysfunction. Sensory ataxia is not usually regarded as a typical clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d0292eacfc2ec3c908c20002129fd6
http://hdl.handle.net/11573/559032
http://hdl.handle.net/11573/559032
Autor:
Maura Pugliatti, Carlo Casali, Roberto Di Fabio, Eugenia Storti, Alessandra Tessa, Virgilio Agnetti, Filippo M. Santorelli, Loretta Racis
The few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias (HSPs) indicate a prevalence of 1.27-12.1 per 100,000. This study aims to explore the epidemiological, clinical, and genetic variability of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0b3a20c75b9851531fe2c2030e5db8
http://hdl.handle.net/11573/678254
http://hdl.handle.net/11573/678254
Autor:
Filippo M. Santorelli, Carlo Casali, Alessandro Simonati, Francesco Pezzini, Francesca Dal Moro, Maria Chiara Meschini, Liliana Pestillo, Francesco Pierelli, Roberto Di Fabio, Stefano Doccini
Publikováno v:
Scopus-Elsevier
CIÊNCIAVITAE
Neurology
CIÊNCIAVITAE
Neurology
Neuronal ceroid lipofuscinosis (NCL) has different forms, of which Kufs disease (KD) is the least frequent and the most difficult to diagnose.1 KD can, in turn, be divided into type A, characterized by progressive myoclonus epilepsy and cognitive dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90f7808ffae8335fed5e637e69bbb1a
http://hdl.handle.net/11562/799766
http://hdl.handle.net/11562/799766