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Items: 7

1.

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A.

Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.

PMID:
30850329
2.

MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.

Rinchetti P, Rizzuti M, Faravelli I, Corti S.

Mol Neurobiol. 2018 Mar;55(3):2617-2630. doi: 10.1007/s12035-017-0537-z. Epub 2017 Apr 18. Review.

3.

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

Simone C, Ramirez A, Bucchia M, Rinchetti P, Rideout H, Papadimitriou D, Re DB, Corti S.

Cell Mol Life Sci. 2016 Mar;73(5):1003-20. doi: 10.1007/s00018-015-2106-9. Epub 2015 Dec 18. Review.

4.

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.

Nizzardo M, Simone C, Rizzo F, Salani S, Dametti S, Rinchetti P, Del Bo R, Foust K, Kaspar BK, Bresolin N, Comi GP, Corti S.

Sci Adv. 2015 Mar 13;1(2):e1500078. doi: 10.1126/sciadv.1500078. eCollection 2015 Mar.

5.

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.

Vanoli F, Rinchetti P, Porro F, Parente V, Corti S.

J Cell Mol Med. 2015 Sep;19(9):2058-66. doi: 10.1111/jcmm.12606. Epub 2015 Jun 20. Review.

6.

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.

Porro F, Rinchetti P, Magri F, Riboldi G, Nizzardo M, Simone C, Zanetta C, Faravelli I, Corti S.

J Neurol Sci. 2014 Nov 15;346(1-2):35-42. doi: 10.1016/j.jns.2014.09.010. Epub 2014 Sep 16. Review.

PMID:
25248952
7.

Motor neuron derivation from human embryonic and induced pluripotent stem cells: experimental approaches and clinical perspectives.

Faravelli I, Bucchia M, Rinchetti P, Nizzardo M, Simone C, Frattini E, Corti S.

Stem Cell Res Ther. 2014 Jul 14;5(4):87. doi: 10.1186/scrt476. Review.

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