Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Grazia Gabriella Salerno"'
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-4 (2019)
Abstract Background Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentatio
Externí odkaz:
https://doaj.org/article/ac233ac63e9a491d96bfd0e198689b44
Autor:
Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger
Externí odkaz:
https://doaj.org/article/40e0a2cf747a4aa68375f72fb1d55448
Autor:
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-5 (2017)
Abstract Background Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1
Externí odkaz:
https://doaj.org/article/63dfe280b4b449fdbbbb4ef13cdafd11
Autor:
Daniele Frattini, Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Carlo Fusco, Juha Koskenvuo, Silvia Schiavoni
Publikováno v:
Journal of Clinical Neuroscience. 94:281-285
SPG6, caused by NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome) gene pathogenic variants, is mainly considered as a pure autosomal dominant hereditary spastic paraplegia (AD-HSP), even if descriptions of complex cases have also been reported.
Autor:
Carlotta Spagnoli, Daniele Frattini, Susanna Rizzi, Carlo Fusco, Francesco Pisani, Grazia Gabriella Salerno, Silvia Schiavoni
Publikováno v:
Epileptic Disorders. 23:739-743
Although neurobeachin (NBEA) de novo genetic variants have been mainly reported in patients with neurodevelopmental disorders (NDD), they have also been recently associated with early childhood epilepsy. We report an 11-year-old boy who was first eva
Autor:
Carlotta Spagnoli, Daniele Frattini, Juha Koskenvuo, Carlo Fusco, Grazia Gabriella Salerno, Susanna Rizzi
Publikováno v:
Molecular Syndromology. 12:101-105
Abnormal breathing patterns are a typical feature of Rett and Pitt-Hopkins syndrome and their variants. Their treatment can be challenging, with a risk of long-term detrimental consequences. Early infantile epileptic encephalopathy (EIEE) type 54 is
Autor:
Livia Garavelli, Daniele Frattini, Gabriele Trimarchi, Stefano Giuseppe Caraffi, Susanna Rizzi, Carlotta Spagnoli, Carlo Fusco, Rosario Pascarella, Grazia Gabriella Salerno, Claudio Moratti
Publikováno v:
American Journal of Medical Genetics Part A. 182:2675-2679
The CAMK2B gene encodes the β-subunit of calcium/calmodulin-dependent protein kinase II (CAMK2), an enzyme that has crucial roles in synaptic plasticity, especially in hippocampal and cerebellar neurons. Heterozygous variants in CAMK2B cause a rare
Autor:
Luca Soliani, Juha Koskenvuo, Susanna Rizzi, Carlo Fusco, Miika Mehine, Carlotta Spagnoli, Daniele Frattini, Grazia Gabriella Salerno
Publikováno v:
Journal of Neuro-Ophthalmology. 41:e85-e88
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-4 (2019)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Background Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation We repo
Autor:
Carlotta Spagnoli, Daniele Frattini, Laura Maria Ceteroni, Milja Kaare, Ivana Frongia, Grazia Gabriella Salerno, Carlo Fusco, Francesco Pisani, Susanna Rizzi, Margherita Baga
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in Neurology
Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger