Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Anna Perretti"'
Autor:
Anna Perretti, Michele Ragno, Lucio Santoro, Gabriella Cacchiò, Valeria Iodice, Fiore Manganelli, Michela Grazioli, Maria Scarcella, Flavia Silvaggio, Luigi Trojano
Publikováno v:
Clinical Neurophysiology. 119:351-355
OBJECTIVE: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease responsible for an early onset cognitive impairment. Aim of our study was to test the cortical cholin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b82156f663824b661eba30f7b6ff2825
https://doi.org/10.1016/j.clinph.2007.10.011
https://doi.org/10.1016/j.clinph.2007.10.011
Autor:
Annamaria Stancanelli, Maria Nolano, Bernardo Lanzillo, Vincenzo Donadio, Vincenzo Provitera, Anna Perretti, A.M. Saltalamacchia, Lucio Santoro, Fiore Manganelli
Publikováno v:
Brain. 129:2119-2131
Ross syndrome is described as a rare disorder of sweating associated with areflexia and tonic pupil. Since Ross's first description in 1958, approximately 40 cases have been described. We assessed the involvement of cutaneous innervation in 12 subjec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150033ed66cd7cb0a3958517d4d10e99
https://doi.org/10.1093/brain/awl175
https://doi.org/10.1093/brain/awl175
Autor:
Generoso Andria, Roberto Della Casa, Francesco Di Salle, Daniela Melis, Raffaele Elefante, Anna Perretti, Giancarlo Parenti, Luigi Sequino, Lucio Santoro, Alfonso Romano, Roberto Paludetto, G. Mansi, Michelina Sibilio
Publikováno v:
The Journal of Pediatrics. 144:637-642
OBJECTIVE: To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI). STUDY DESIGN: Nineteen patients (13 females and 6 males, aged 0.9-22.6 years) and 38 sex- and age-matched controls entered the study. Neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec0c1ff536bb8536657480813042331
https://doi.org/10.1016/j.jpeds.2004.02.033
https://doi.org/10.1016/j.jpeds.2004.02.033
Autor:
Luigi Pianese, G. De Michele, Alessandro Filla, F Cavalcanti, Giovanni Coppola, G. Grimaldi, Marianna Amboni, Anna Perretti, Giuseppe Vita, Elena Salvatore, Lucio Santoro, Giuseppe Caruso, Antonio Toscano
Publikováno v:
Journal of Neurology. 246:353-357
Among 101 patients homozygous for GAA expansion within the X25 gene, 11 from 8 families had Friedreich’s ataxia with retained reflexes in the lower limbs (FARR). These patients had a lower occurrence of decreased vibration sense, pes cavus, and ech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3096253deb748fd9327512124b967593
https://doi.org/10.1007/s004150050362
https://doi.org/10.1007/s004150050362
Autor:
G. De Michele, Carmine Vitale, A. Filla, E. Marciano, L. Di Maio, M. Menzione, Anna Perretti, F. Briganti, Vincenzo Marcelli, A. De Giorgio
Publikováno v:
Scopus-Elsevier
Syndrome cervico-oculo-acoustique chez un homme issu d'une union consanguine. Contexte: Le syndrome cervico-oculo-acoustique comprend le syndrome de Klippel-Feil, une surdite de perception et le syndrome de retractiondu globe oculaire de Duane. Plusi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c81ee8f9a436ecd678efa3285b7e4113
https://doi.org/10.1017/s0317167100005059
https://doi.org/10.1017/s0317167100005059
Autor:
Maria Nolano, G. De Michele, L. Santoro, Anna Perretti, Amalia C. Bruni, Fiore Manganelli, A. Filla, Bernardo Lanzillo
Publikováno v:
Neurology. 66:932-934
The authors performed a multimodal electrophysiologic evaluation in nine patients belonging to four SCA17 (spinocerebellar ataxia type 17) families. Peripheral nerve and visual system were not involved. Brainstem auditory evoked potentials were const
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951a529cad1c094998243d9c5e161793
https://doi.org/10.1212/01.wnl.0000203514.92781.fd
https://doi.org/10.1212/01.wnl.0000203514.92781.fd
Autor:
Giuseppe De Michele, V. Scarano, Filippo M. Santorelli, Carlo Rinaldi, Alessandro Filla, Chiara Criscuolo, Lucio Santoro, Pietro Mancini, Anna Perretti, Alessandra Tessa, Tecla Tucci
Publikováno v:
Journal of Neurology. 252:901-903
Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dd25f9cfe3d628b1cdf6869a9dcfad2
https://doi.org/10.1007/s00415-005-0768-1
https://doi.org/10.1007/s00415-005-0768-1
Autor:
Giuseppe Caruso, Anna Perretti, Bernardo Lanzillo, Michele Ragno, Sirio Cocozza, Lucio Santoro, G. De Michele, Gianvito Martino, A. Filla, Fabrizio Barbieri
Publikováno v:
Journal of the Neurological Sciences. 142:45-53
A multimodal electrophysiological study was performed on 41 patients from 24 families with autosomal dominant cerebellar ataxia type I (ADCA I). Upper- and lower-limb motor evoked potentials (MEPs) to transcranial magnetic stimulation, median and tib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678857544564adfeae07bae8ac987243
https://doi.org/10.1016/0022-510x(96)00140-2
https://doi.org/10.1016/0022-510x(96)00140-2
Autor:
Anna Perretti, Maria Nolano, Fiore Manganelli, Angela Pagano, Lucio Santoro, Vincenzo Provitera
Publikováno v:
Clinical autonomic research : official journal of the Clinical Autonomic Research Society. 23(3)
We describe the occurrence of small fiber neuropathy in a patient affected by Chagas disease in the indeterminate phase. After the exclusion of all the possible etiologies of small fiber neuropathy, the disorder was considered related to Trypanosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea076ad1ec648f68c165d45b772b965
https://pubmed.ncbi.nlm.nih.gov/23475268
https://pubmed.ncbi.nlm.nih.gov/23475268
Autor:
Antonio Federico, Enza Zicari, Alessandra Rufa, A. Cappelli, Leonardo Pantoni, Anna Perretti, Camilla D'Eramo, Michele Ragno, Francesca Pescini, M. T. Dotti, Domenico Inzitari, Silvia Bianchi, P. Zolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac797630904094647f9ac4ad0501bbc
http://hdl.handle.net/11365/19201
http://hdl.handle.net/11365/19201
