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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1984 1
1991 2
1992 1
1993 2
1994 1
1995 2
1997 2
1998 2
1999 2
2000 1
2001 3
2002 3
2003 1
2004 2
2005 3
2006 4
2007 10
2008 7
2009 11
2010 11
2011 11
2012 11
2013 6
2014 14
2015 17
2016 10
2017 10
2018 10
2019 18
2020 16
2021 21
2022 18
2023 12
2024 8

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216 results

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Page 1
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C, Li J, Able R, Trifillis P, Tulinius M; Study 019 investigators. McDonald CM, et al. J Comp Eff Res. 2022 Feb;11(3):139-155. doi: 10.2217/cer-2021-0196. Epub 2021 Nov 18. J Comp Eff Res. 2022. PMID: 34791888 Free PMC article. Clinical Trial.
Aim: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. Patients & methods: Study 019 was a …
Aim: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patien …
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
SUNFISH part 2 is ongoing and will provide additional evidence regarding the long-term safety and efficacy of risdiplam. FUNDING: F Hoffmann-La Roche....
SUNFISH part 2 is ongoing and will provide additional evidence regarding the long-term safety and efficacy of risdiplam. FUNDING: F H …
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
van Geest FS, Groeneweg S, van den Akker ELT, Bacos I, Barca D, van den Berg SAA, Bertini E, Brunner D, Brunetti-Pierri N, Cappa M, Cappuccio G, Chatterjee K, Chesover AD, Christian P, Coutant R, Craiu D, Crock P, Dewey C, Dica A, Dimitri P, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi LR, George B, Hackenberg A, Heinrich B, Huynh T, Kłosowska A, Lawson-Yuen A, Linder-Lucht M, Lyons G, Monti Lora F, Moran C, Müller KE, Paone L, Paul PG, Polak M, Porta F, Reinauer C, de Rijke YB, Seckold R, Menevşe TS, Simm P, Simon A, Spada M, Stoupa A, Szeifert L, Tonduti D, van Toor H, Turan S, Vanderniet J, de Waart M, van der Wal R, van der Walt A, van Wermeskerken AM, Wierzba J, Zibordi F, Zung A, Peeters RP, Visser WE. van Geest FS, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750. J Clin Endocrinol Metab. 2022. PMID: 34679181 Free PMC article.
OBJECTIVE: Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. METHODS: In this real-life retrospective cohort study, we investigated the efficacy of Tri …
OBJECTIVE: Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac …
Buckshot colic.
Bertini JE Jr, Boileau MA, Fischer RP. Bertini JE Jr, et al. Urology. 1984 Feb;23(2):167-9. doi: 10.1016/0090-4295(84)90013-x. Urology. 1984. PMID: 6364525
This rare complication "buckshot colic" usually can be treated nonoperatively. The term "buckshot colic" is clarified....
This rare complication "buckshot colic" usually can be treated nonoperatively. The term "buckshot colic" is clarified....
Long term follow-up of scoliosis progression in type II SMA patients.
Coratti G, Pera MC, D'Amico A, Bruno C, Bovis F, Gullì C, Brolatti N, Pedemonte M, Apicella M, Antonaci L, Ricci M, Capasso A, Cicala G, Cutrona C, de Sanctis R, Carnicella S, Forcina N, Catteruccia M, Damasio MB, Labianca L, Leone A, Bertini E, Pane M, Mercuri E. Coratti G, et al. Neuromuscul Disord. 2022 Dec;32(11-12):879-885. doi: 10.1016/j.nmd.2022.11.004. Epub 2022 Nov 17. Neuromuscul Disord. 2022. PMID: 36456406
Long-term oxygen therapy in COPD: evidences and open questions of current indications.
Corrado A, Renda T, Bertini S. Corrado A, et al. Monaldi Arch Chest Dis. 2010 Mar;73(1):34-43. doi: 10.4081/monaldi.2010.311. Monaldi Arch Chest Dis. 2010. PMID: 20499792 Review.
Long term oxygen therapy (LTOT) has been shown to improve the survival rate in Chronic Obstructive Pulmonary Disease (COPD) patients with severe resting hypoxemia by NOTT and MRC studies, published more than 25 years ago. ...
Long term oxygen therapy (LTOT) has been shown to improve the survival rate in Chronic Obstructive Pulmonary Disease (COPD) patients …
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.
Mitelman O, Abdel-Hamid HZ, Byrne BJ, Connolly AM, Heydemann P, Proud C, Shieh PB, Wagner KR, Dugar A, Santra S, Signorovitch J, Goemans N; investigators from the LNMRC Natural History study; McDonald CM; investigators from the CINRG Duchenne National History Study; Mercuri E; investigators from The DMD Italian Group; Mendell JR. Mitelman O, et al. J Neuromuscul Dis. 2022;9(1):39-52. doi: 10.3233/JND-210665. J Neuromuscul Dis. 2022. PMID: 34420980 Free PMC article. Clinical Trial.
Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compare long-term clinical outcomes of eteplirsen-treated patients from Studies 201/202/405 with those of external controls. ...
Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compa …
Hypomyelinating leukodystrophies: translational research progress and prospects.
Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Pouwels PJ, et al. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24. Ann Neurol. 2014. PMID: 24916848 Free article. Review.
Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials in the near term, yet there are significant gaps in knowledge in disease classification, characterization, and outcome measures in thi …
Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials i …
Using ultrasound to examine muscle mass in preterm infants at term-equivalent age.
Bertini G, Elia S, Dani C. Bertini G, et al. Eur J Pediatr. 2021 Feb;180(2):461-468. doi: 10.1007/s00431-020-03846-7. Epub 2020 Oct 20. Eur J Pediatr. 2021. PMID: 33083899
The aim of this study was to compare the skeletal muscle thickness of three different muscles and muscle groups in 44 preterm infants studied at term-equivalent age and 44 full-term controls: the biceps brachii, quadriceps femoris, and anterior tibial. ...This was p …
The aim of this study was to compare the skeletal muscle thickness of three different muscles and muscle groups in 44 preterm infants studie …
Prevention of bilirubin encephalopathy.
Bertini G, Dani C, Pezzati M, Rubaltelli FF. Bertini G, et al. Biol Neonate. 2001;79(3-4):219-23. doi: 10.1159/000047095. Biol Neonate. 2001. PMID: 11275655 Review.
In preterm infants, the prevention of hyperbilirubinemia with phototherapy is a relatively simple task, since these infants are cared for in hospital. Early hospital discharge of full-term neonates represents a major concern. The management of neonatal jaundice requires th …
In preterm infants, the prevention of hyperbilirubinemia with phototherapy is a relatively simple task, since these infants are cared for in …
216 results