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

Year Number of Results
1966 2
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1975 7
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1987 5
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1992 2
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1994 5
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2002 6
2003 9
2004 14
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2006 17
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2008 16
2009 25
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602 results

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Quoted phrase not found in phrase index: "Compton-North congenital myopathy"
Page 1
Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species.
Tabebordbar M, Lagerborg KA, Stanton A, King EM, Ye S, Tellez L, Krunnfusz A, Tavakoli S, Widrick JJ, Messemer KA, Troiano EC, Moghadaszadeh B, Peacker BL, Leacock KA, Horwitz N, Beggs AH, Wagers AJ, Sabeti PC. Tabebordbar M, et al. Cell. 2021 Sep 16;184(19):4919-4938.e22. doi: 10.1016/j.cell.2021.08.028. Epub 2021 Sep 9. Cell. 2021. PMID: 34506722 Free PMC article.
Replacing or editing disease-causing mutations holds great promise for treating many human diseases. Yet, delivering therapeutic genetic modifiers to specific cells in vivo has been challenging, particularly in large, anatomically distributed tissues such as skeletal muscl …
Replacing or editing disease-causing mutations holds great promise for treating many human diseases. Yet, delivering therapeutic gene …
Effect of physical therapy treatment in infants treated for congenital muscular torticollis - a narrative review.
Bashir A, Amjad F, Ahmad A, Arooj A, Gilani SA. Bashir A, et al. J Pak Med Assoc. 2023 Jan;73(1):111-116. doi: 10.47391/JPMA.3852. J Pak Med Assoc. 2023. PMID: 36842018 Free article. Review.
To determine the effectiveness of physical therapy treatment in infants treated for congenital muscular torticollis, relevant articles published between 2011 and 2020 were located using electronic databases. ...The studies typically found significant statistical eff …
To determine the effectiveness of physical therapy treatment in infants treated for congenital muscular torticollis, relevant …
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. ...
Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manif …
Congenital muscular torticollis: current concepts and review of treatment.
Do TT. Do TT. Curr Opin Pediatr. 2006 Feb;18(1):26-9. doi: 10.1097/01.mop.0000192520.48411.fa. Curr Opin Pediatr. 2006. PMID: 16470158 Review.
Botox has recently been shown to be an effective intermediate method of treatment for more resistant cases of congenital muscular torticollis. In those presenting after the age of 1 year, there is an increased rate of sternocleidomastoid muscle lengthening. The leng …
Botox has recently been shown to be an effective intermediate method of treatment for more resistant cases of congenital muscular …
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, 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, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2. Neurology. 2023. PMID: 37268435 Free PMC article. Clinical Trial.
We present data from MMPOWER-3, a pivotal, phase-3, randomized, double-blind, placebo-controlled clinical trial that evaluated the efficacy and safety of elamipretide in participants with genetically confirmed PMM. ...However, this phase-3 study demonstrated …
We present data from MMPOWER-3, a pivotal, phase-3, randomized, double-blind, placebo-controlled clinical trial that ev …
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF. Thornton CA, et al. Lancet Neurol. 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. Lancet Neurol. 2023. PMID: 36804094 Clinical Trial.
We aimed to investigate the safety of baliforsen (ISIS 598769), an ASO targeting DMPK mRNA. METHODS: In this dose-escalation phase 1/2a trial, adults aged 20-55 years with myotonic dystrophy type 1 were enrolled at seven tertiary referral centres in the USA and randomly …
We aimed to investigate the safety of baliforsen (ISIS 598769), an ASO targeting DMPK mRNA. METHODS: In this dose-escalation phase 1/2a t …
Genetic therapy for congenital myopathies.
Maani N, Karolczak S, Dowling JJ. Maani N, et al. Curr Opin Neurol. 2021 Oct 1;34(5):727-737. doi: 10.1097/WCO.0000000000000978. Curr Opin Neurol. 2021. PMID: 34267051 Review.
RECENT FINDINGS: Several candidate therapeutics for congenital myopathies are in the development pipeline, including ones in clinical trial. ...SUMMARY: Genetic therapies are ushering in an era of precision medicine for neurological diseases. …
RECENT FINDINGS: Several candidate therapeutics for congenital myopathies are in the development pipeline, including ones in …
Therapeutic Aspects in Congenital Myopathies.
Jungbluth H, Muntoni F. Jungbluth H, et al. Semin Pediatr Neurol. 2019 Apr;29:71-82. doi: 10.1016/j.spen.2019.01.004. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060727 Review.
The congenital myopathies are a genetically heterogeneous and diverse group of early-onset, nondystrophic neuromuscular disorders. While the originally reported "classical" entities within this group - Central Core Disease, Multiminicore Disease, Nemaline Myopath …
The congenital myopathies are a genetically heterogeneous and diverse group of early-onset, nondystrophic neuromuscular disord …
Physical activity interventions for people with congenital heart disease.
Williams CA, Wadey C, Pieles G, Stuart G, Taylor RS, Long L. Williams CA, et al. Cochrane Database Syst Rev. 2020 Oct 28;10(10):CD013400. doi: 10.1002/14651858.CD013400.pub2. Cochrane Database Syst Rev. 2020. PMID: 33112424 Free PMC article.
BACKGROUND: Congenital heart disease (ConHD) affects approximately 1% of all live births. ...We included all individuals with a diagnosis of congenital heart disease, regardless of age or previous medical interventions. ...
BACKGROUND: Congenital heart disease (ConHD) affects approximately 1% of all live births. ...We included all individuals with a diagn …
Chanarin-Dorfman Syndrome.
Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z. Waheed N, et al. J Coll Physicians Surg Pak. 2016 Sep;26(9):787-9. J Coll Physicians Surg Pak. 2016. PMID: 27671187
Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythrod …
Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in …
602 results