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Page 1
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Lischewski SA, Konrad K, Dogan I, Didszun C, Costa AS, Schawohl SA, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Schulz JB, Reetz K; EFACTS study group. Lischewski SA, et al. Eur J Neurol. 2025 Jan;32(1):e70011. doi: 10.1111/ene.70011. Eur J Neurol. 2025. PMID: 39797559 Free PMC article.
Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Colona VL, Garone G, Nicita F, Travaglini L, Pro S, Rossi-Espagnet MC, Piluso A, Bisozzi E, Lettori D, Bertini E, Vasco G. Colona VL, et al. Among authors: bertini e. Parkinsonism Relat Disord. 2025 Jan 4:107262. doi: 10.1016/j.parkreldis.2025.107262. Online ahead of print. Parkinsonism Relat Disord. 2025. PMID: 39779417
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
Pera MC, Coratti G, Pane M, Masson R, Sansone VA, D'Amico A, Catteruccia M, Agosto C, Varone A, Bruno C, Messina S, Ricci F, Bruno I, Procopio E, Pini A, Siliquini S, Zanin R, Albamonte E, Berardinelli A, Mastella C, Baranello G, Previtali SC, Trabacca A, Bravetti C, Gagliardi D, Filosto M, de Sanctis R, Finkel R, Mercuri E; Italian SMA type I Study Group. Pera MC, et al. EClinicalMedicine. 2024 Nov 30;78:102967. doi: 10.1016/j.eclinm.2024.102967. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39687428 Free PMC article.
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.
Capasso A, Cicala G, Ricci M, Pane M, D'Amico A, Bruno C, Sansone VA, Messina S, Bello L, Pegoraro E, D'Angelo MG, Masson R, Berardinelli A, Pini A, Ricci F, Mongini TE, Coccia M, Nigro V, Trabacca A, Filosto M, Comi G, Magri F, Barp A, Battini R, Previtali SC, Valentino ML, Diella E, Dosi C, Ruggiero L, Siciliano G, Ricci G, Catteruccia M, Arpaia C, Coratti G, Norcia G, Bonanno S, Verriello L, Agosto C, Varone A, Ferlini A, Maioli MA, Brogna C, Siliquini S, Bruno I, Panicucci C, Allegra C, Albamonte E, Mercuri E; Italian DMD group. Capasso A, et al. Eur J Pediatr. 2024 Dec 16;184(1):86. doi: 10.1007/s00431-024-05903-x. Eur J Pediatr. 2024. PMID: 39680193
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: bertini e. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.
Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M; MetabERN PM‐MD Consortium authors; Rahman S. Neugebauer J, et al. Among authors: bertini e. J Inherit Metab Dis. 2025 Jan;48(1):e12805. doi: 10.1002/jimd.12805. Epub 2024 Nov 11. J Inherit Metab Dis. 2025. PMID: 39529390 Free PMC article.
Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.
Hassan A, di Vito R, Nuzzo T, Vidali M, Carlini MJ, Yadav S, Yang H, D'Amico A, Kolici X, Valsecchi V, Panicucci C, Pignataro G, Bruno C, Bertini E, Errico F, Pellizzoni L, Usiello A. Hassan A, et al. Among authors: bertini e. bioRxiv [Preprint]. 2024 Oct 22:2024.10.22.619645. doi: 10.1101/2024.10.22.619645. bioRxiv. 2024. PMID: 39484528 Free PMC article. Preprint.
937 results