Bassi MT - Search Results

1

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases.

Foschi M, Vacchiano V, Avoni P, Incensi A, Battaglia S, Donadio V, Panzeri E, Bassi MT, Liguori R, Rizzo G. Foschi M, et al. Among authors: bassi mt. Front Neurol. 2019 Feb 6;10:70. doi: 10.3389/fneur.2019.00070. eCollection 2019. Front Neurol. 2019. PMID: 30787906 Free PMC article.

2

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, D'Angelo MG, Filosto M, Dilena R, Arrigoni F, Castelli M, Maghini C, Germiniasi C, Menni F, Martinuzzi A, Bresolin N, Bassi MT. Citterio A, et al. Among authors: bassi mt. J Neurol. 2014 Feb;261(2):373-81. doi: 10.1007/s00415-013-7206-6. Epub 2013 Dec 13. J Neurol. 2014. PMID: 24337409 Free article.

3

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

Liguori R, Giannoccaro MP, Arnoldi A, Citterio A, Tonon C, Lodi R, Bresolin N, Bassi MT. Liguori R, et al. Among authors: bassi mt. J Neurol. 2014 Sep;261(9):1789-93. doi: 10.1007/s00415-014-7418-4. Epub 2014 Jul 3. J Neurol. 2014. PMID: 24989667 Free article.

4

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

Giannoccaro MP, Liguori R, Arnoldi A, Donadio V, Avoni P, Bassi MT. Giannoccaro MP, et al. Among authors: bassi mt. J Neurol. 2014 Sep;261(9):1825-7. doi: 10.1007/s00415-014-7443-3. Epub 2014 Jul 25. J Neurol. 2014. PMID: 25059394 No abstract available.

5

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R. Romaniello R, et al. Among authors: bassi mt. Neuroreport. 2015 Mar 25;26(5):254-7. doi: 10.1097/WNR.0000000000000337. Neuroreport. 2015. PMID: 25714420

6

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT. Citterio A, et al. Among authors: bassi mt. J Neurol. 2015 Dec;262(12):2684-90. doi: 10.1007/s00415-015-7899-9. Epub 2015 Sep 26. J Neurol. 2015. PMID: 26410750 Free article.

7

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: bassi mt. Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Eur Radiol. 2017. PMID: 28677066

8

Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21.

Scarlato M, Citterio A, Barbieri A, Godi C, Panzeri E, Bassi MT. Scarlato M, et al. Among authors: bassi mt. J Neurol. 2017 Sep;264(9):2021-2023. doi: 10.1007/s00415-017-8558-0. Epub 2017 Jul 27. J Neurol. 2017. PMID: 28752238 No abstract available.

9

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Vantaggiato C, Panzeri E, Castelli M, Citterio A, Arnoldi A, Santorelli FM, Liguori R, Scarlato M, Musumeci O, Toscano A, Clementi E, Bassi MT. Vantaggiato C, et al. Among authors: bassi mt. Autophagy. 2019 Jan;15(1):34-57. doi: 10.1080/15548627.2018.1507438. Epub 2018 Sep 13. Autophagy. 2019. PMID: 30081747 Free PMC article.

10

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis.

Simone M, Trabacca A, Panzeri E, Losito L, Citterio A, Bassi MT. Simone M, et al. Among authors: bassi mt. Front Neurol. 2018 Dec 7;9:1078. doi: 10.3389/fneur.2018.01078. eCollection 2018. Front Neurol. 2018. PMID: 30581417 Free PMC article.

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