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A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F. Schiffmann R, et al. Among authors: rinaldi d. J Inherit Metab Dis. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6. J Inherit Metab Dis. 2018. PMID: 29110179 Clinical Trial.
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Mochel F, et al. Among authors: rinaldi d. J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3. J Neurol Neurosurg Psychiatry. 2016. PMID: 26536893 Free PMC article. Clinical Trial.
Low cancer prevalence in polyglutamine expansion diseases.
Coarelli G, Diallo A, Thion MS, Rinaldi D, Calvas F, Boukbiza OL, Tataru A, Charles P, Tranchant C, Marelli C, Ewenczyk C, Tchikviladzé M, Monin ML, Carlander B, Anheim M, Brice A, Mochel F, Tezenas du Montcel S, Humbert S, Durr A. Coarelli G, et al. Among authors: rinaldi d. Neurology. 2017 Mar 21;88(12):1114-1119. doi: 10.1212/WNL.0000000000003725. Epub 2017 Feb 15. Neurology. 2017. PMID: 28202696
Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.
Adanyeguh IM, Perlbarg V, Henry PG, Rinaldi D, Petit E, Valabregue R, Brice A, Durr A, Mochel F. Adanyeguh IM, et al. Among authors: rinaldi d. Neuroimage Clin. 2018 Jun 14;19:858-867. doi: 10.1016/j.nicl.2018.06.011. eCollection 2018. Neuroimage Clin. 2018. PMID: 29922574 Free PMC article.
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Khrouf W, Saracino D, Rucheton B, Houot M, Clot F, Rinaldi D, Vitor J, Huynh M, Heng E, Schlemmer D, Pasquier F, Deramecourt V, Auriacombe S, Azuar C, Levy R, Bombois S, Boutoleau-Brétonnière C, Pariente J, Didic M, Wallon D, Fluchère F, Auvin S, Younes IB; French clinical and genetic research network on FTD/FTD-ALS; Predict-PGRN study group; Nadjar Y, Brice A, Dubois B, Bonnefont-Rousselot D, Le Ber I, Lamari F. Khrouf W, et al. Among authors: rinaldi d. Neurobiol Dis. 2023 Jun 1;181:106108. doi: 10.1016/j.nbd.2023.106108. Epub 2023 Mar 30. Neurobiol Dis. 2023. PMID: 37003407 Free article.
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
Fournier C, Anquetil V, Camuzat A, Stirati-Buron S, Sazdovitch V, Molina-Porcel L, Turbant S, Rinaldi D, Sánchez-Valle R, Barbier M, Latouche M; Neuro-CEB Neuropathology Network; Stevanin G, Seilhean D, Brice A, Duyckaerts C, Le Ber I. Fournier C, et al. Among authors: rinaldi d. Acta Neuropathol Commun. 2018 May 30;6(1):41. doi: 10.1186/s40478-018-0547-8. Acta Neuropathol Commun. 2018. PMID: 29848387 Free PMC article. No abstract available.
180 results