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Quoted phrase not found in phrase index: "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"
Page 1
iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling.
Guo D, Daman K, Chen JJ, Shi MJ, Yan J, Matijasevic Z, Rickard AM, Bennett MH, Kiselyov A, Zhou H, Bang AG, Wagner KR, Maehr R, King OD, Hayward LJ, Emerson CP Jr. Guo D, et al. Elife. 2022 Jan 25;11:e70341. doi: 10.7554/eLife.70341. Elife. 2022. PMID: 35076017 Free PMC article.
As models of disease, iMyoblasts from individuals with Facioscapulohumeral Muscular Dystrophy revealed a previously unknown epigenetic regulatory mechanism controlling developmental expression of the pathological DUX4 gene. iMyoblasts from Limb-Girdle Muscular Dystrophy R7 and R9 …
As models of disease, iMyoblasts from individuals with Facioscapulohumeral Muscular Dystrophy revealed a previously unknown epigenetic regul …
Respiratory management of patients with Fukuyama congenital muscular dystrophy.
Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K. Sato T, et al. Brain Dev. 2016 Mar;38(3):324-30. doi: 10.1016/j.braindev.2015.08.010. Epub 2015 Sep 9. Brain Dev. 2016. PMID: 26363734
METHODS: We retrospectively studied respiratory dysfunction and therapeutic management in 48 genetically diagnosed FCMD patients (mean age 11.0 years; range 3.6-31.9 years). RESULTS: Mechanical ventilation was initiated at a median age of 12.1 years in 16 patients, 14 of w …
METHODS: We retrospectively studied respiratory dysfunction and therapeutic management in 48 genetically diagnosed FCMD patients (mean age …
Spinal correction in patients with Fukuyama congenital muscular dystrophy.
Saito W, Namba T, Inoue G, Imura T, Miyagi M, Nakazawa T, Shirasawa E, Uchida K, Takaso M. Saito W, et al. J Orthop Sci. 2017 Jul;22(4):658-664. doi: 10.1016/j.jos.2017.02.005. Epub 2017 Mar 18. J Orthop Sci. 2017. PMID: 28325699
This study reports the short-term clinical and radiographic results of posterior spinal correction and fusion in FCMD. METHODS: We retrospectively reviewed 11 consecutive FCMD patients, average age 13 years old, treated with posterior spinal instrumentation and fusion betw …
This study reports the short-term clinical and radiographic results of posterior spinal correction and fusion in FCMD. METHODS: We retrospec …
New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies.
Hirasawa-Inoue A, Sato N, Shigemoto Y, Kimura Y, Ishiyama A, Takeshita E, Mori-Yoshimura M, Oya Y, Takahashi Y, Komaki H, Matsuda H, Sasaki M. Hirasawa-Inoue A, et al. AJNR Am J Neuroradiol. 2020 Jun;41(6):1094-1098. doi: 10.3174/ajnr.A6577. Epub 2020 May 21. AJNR Am J Neuroradiol. 2020. PMID: 32439644 Free PMC article.
Abnormally located superficial vessels beneath the cortex were seen in 11.1% on T2WI. Hypoplasia of the superficial cerebral veins was noted in all patients who underwent SWI. Dilated and tortuous subependymal veins were seen in 40.0% on SWI. Hemorrhages were seen in 11 …
Abnormally located superficial vessels beneath the cortex were seen in 11.1% on T2WI. Hypoplasia of the superficial cerebral veins wa …
Congenital muscular dystrophies: 1997 update.
Voit T. Voit T. Brain Dev. 1998 Mar;20(2):65-74. doi: 10.1016/s0387-7604(97)00094-6. Brain Dev. 1998. PMID: 9545174 Review.
At least two further forms of CMD with brain involvement are nosologically well defined: Walker--Warburg-CMD is characterized by lissencephaly type 11, eye dysgenesis and muscular dystrophy. ...
At least two further forms of CMD with brain involvement are nosologically well defined: Walker--Warburg-CMD is characterized …
Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
Ortiz-Cordero C, Bincoletto C, Dhoke NR, Selvaraj S, Magli A, Zhou H, Kim DH, Bang AG, Perlingeiro RCR. Ortiz-Cordero C, et al. Stem Cell Reports. 2021 Nov 9;16(11):2752-2767. doi: 10.1016/j.stemcr.2021.09.009. Epub 2021 Oct 14. Stem Cell Reports. 2021. PMID: 34653404 Free PMC article.
Mutations in FKRP are associated with muscular dystrophies (MD) ranging from limb-girdle LGMDR9 to Walker-Warburg Syndrome (WWS), a severe type of congenital MD. Although hypoglycosylation of alpha-DG is the main hallmark of this group of diseases, a full und …
Mutations in FKRP are associated with muscular dystrophies (MD) ranging from limb-girdle LGMDR9 to Walker-Warburg Syndrome …
Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography.
Katorza E, Gat I, Duvdevani N, Meller N, Pardo N, Barzilay E, Achiron R. Katorza E, et al. J Matern Fetal Neonatal Med. 2018 Feb;31(4):506-512. doi: 10.1080/14767058.2017.1289165. Epub 2017 Feb 15. J Matern Fetal Neonatal Med. 2018. PMID: 28282781
Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13.6 gestational weeks, and 32 referred patients due to suspicious CNS finding during previous NT scan. ...Acrania/anencephaly was the most common defect (nin …
Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13.6 gestational w …
Congenital muscular dystrophy with abnormal radiographic myelin pattern.
Cook JD, Gascon GG, Haider A, Coates R, Stigsby B, Ozand PT, Banna M. Cook JD, et al. J Child Neurol. 1992 Apr;7 Suppl:S51-63. doi: 10.1177/08830738920070010811. J Child Neurol. 1992. PMID: 1588016
We report 11 children with a homogeneous clinical syndrome affecting both sexes, characterized by weakness at birth, slowly improving course, weakness of all muscle groups, arreflexia, elevated blood creatine kinase, normal nerve conduction velocity, dystrophic chan …
We report 11 children with a homogeneous clinical syndrome affecting both sexes, characterized by weakness at birth, slowly im …
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG. Verhagen JM, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30. Eur J Med Genet. 2011. PMID: 21839187
Seventy-five individuals met the inclusion criteria, comprising 36% (27/75) NSH and 64% (48/75) SH. In 11% (8/75) hydrocephalus was familial. The cause of hydrocephalus was unknown in 81% (61/75), including all patients with NSH. ...In the group of SH patients, 29% (14/48) …
Seventy-five individuals met the inclusion criteria, comprising 36% (27/75) NSH and 64% (48/75) SH. In 11% (8/75) hydrocephalus was f …
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