Author/Creator: Santorelli, F.M. - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Santorelli, F.M.

1. 'When atlastin meets spastin'. (13th January 2014)

Authors:: Di Fabio, R.; Tessa, A.; Marcotulli, C.; Leonardi, L.; Pierelli, F.; Santorelli, F.M.; Casali, C.
Journal:: Clinical genetics
Issue:: Volume 86:Number 5(2014:Nov.)
Page Start:: 504
Record Type:: Journal Article
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2. 45. Clinical and electrophysiological non-SPG4 spectrum of HSP. Issue 1 (January 2015)

Authors:: Polo, A.; Ferigo, L.; Marucco, A.; Sorarù, G.; Santorelli, F.M.; Bonometti, M.A.
Journal:: Clinical neurophysiology
Issue:: Volume 126:Issue 1(2015:Jan.)
Page Start:: e11
Record Type:: Journal Article
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3. 6. Glutamate Receptor Ionotropic AMPA 3 (GRIA3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache patients. Issue 12 (December 2016)

Authors:: Coppola, G.; Di Lorenzo, C.; Grieco, G.S.; Santoro, M.; Santorelli, F.M.; Pascale, E.; Pierelli, F.
Journal:: Clinical neurophysiology
Issue:: Volume 127:Issue 12(2016:Dec.)
Page Start:: e324
Record Type:: Journal Article
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4. Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS. (25th October 2013)

Authors:: Masciullo, M.; Silvestri, G.; Modoni, A.; Tessa, A.; Bianchi, M.L.E.; Santorelli, F.M.
Journal:: Clinical genetics
Issue:: Volume 86:Number 4(2014:Oct.)
Page Start:: 396
Record Type:: Journal Article
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5. Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. (May 2016)

Authors:: Masciullo, M.; Tessa, A.; Perazza, S.; Santorelli, F.M.; Perna, A.; Silvestri, G.
Journal:: European journal of paediatric neurology
Issue:: Volume 20:Number 3(2016:May)
Page Start:: 444
Record Type:: Journal Article
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6. Impaired neuronal connectivity as dysregulated cellular function in CLN1 disease: A pathogenetic prediction by RNAseq analysis. (June 2017)

Authors:: Simonati, A.; Pezzini, F.; Bianchi, M.; Bettinetti, L.; Carrozzo, R.; Santorelli, F.M.; Delledonne, M.; Lalowski, M.
Journal:: European journal of paediatric neurology
Issue:: Volume 21(2017)Supplement 1
Page Start:: e129
Record Type:: Journal Article
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7. Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene. Issue 3 (2nd April 2020)

Authors:: Andreini, I.; Moro, F.; Africa, L.M.; Rubegni, A.; Santorelli, F.M.; Scarpini, C.; Sicurelli, F.; Battisti, C.
Journal:: Amyotrophic lateral sclerosis and frontotemporal degeneration
Issue:: Volume 21:Issue 3/4(2020)
Page Start:: 312
Record Type:: Journal Article
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