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Quoted phrase not found in phrase index: "Walker-Warburg congenital muscular dystrophy"
Page 1
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Walker-Warburg syndrome.
Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. ...It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, e …
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associa …
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.
Reed UC. Reed UC. Arq Neuropsiquiatr. 2009 Mar;67(1):144-68. doi: 10.1590/s0004-282x2009000100038. Arq Neuropsiquiatr. 2009. PMID: 19330236 Free article. Review.
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early o …
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with …
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.
Reed UC. Reed UC. Arq Neuropsiquiatr. 2009 Jun;67(2A):343-62. doi: 10.1590/s0004-282x2009000200035. Arq Neuropsiquiatr. 2009. PMID: 19547838 Free article. Review.
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early o …
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with …
Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy.
Kuwayama R, Suzuki Y, Nishikawa M, Kimizu T, Nakajima K, Ikeda T, Mogami Y, Yanagihara K. Kuwayama R, et al. Brain Dev. 2021 Jan;43(1):106-110. doi: 10.1016/j.braindev.2020.06.017. Epub 2020 Jul 25. Brain Dev. 2021. PMID: 32723526
BACKGROUND: Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. ...However, little is known about epile …
BACKGROUND: Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dy …
Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
Wang P, Jin P, Zhu L, Chen M, Qian Y, Zeng W, Wang M, Xu Y, Xu Y, Dong M. Wang P, et al. J Gene Med. 2022 May;24(5):e3417. doi: 10.1002/jgm.3417. Epub 2022 Apr 6. J Gene Med. 2022. PMID: 35338537 Free PMC article.
BACKGROUND: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. ...METHODS: Walker-Warburg Syndrome was su …
BACKGROUND: Congenital hydrocephalus is one of the symptoms of Walker-Warburg syndrome that is attributed to the …
Walker-Warburg Syndrome.
Khalaf SS, Tareef RB. Khalaf SS, et al. J AAPOS. 2006 Oct;10(5):486-8. doi: 10.1016/j.jaapos.2006.06.016. J AAPOS. 2006. PMID: 17070491 Free article. No abstract available.
Congenital muscular dystrophy: a review of the literature.
Leyten QH, Gabreëls FJ, Renier WO, ter Laak HJ. Leyten QH, et al. Clin Neurol Neurosurg. 1996 Nov;98(4):267-80. doi: 10.1016/0303-8467(96)00043-1. Clin Neurol Neurosurg. 1996. PMID: 8930416 Review.
Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle weakness and frequently multiple contractures. CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD with …
Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle w …
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Brown SC, Fernandez-Fuente M, Muntoni F, Vissing J. Brown SC, et al. J Neuropathol Exp Neurol. 2020 Dec 4;79(12):1257-1264. doi: 10.1093/jnen/nlaa120. J Neuropathol Exp Neurol. 2020. PMID: 33051673 Review.
In patients, the mutation at the homozygous state is associated with a severe congenital muscular dystrophy phenotype invariably characterized by severe multisystem disease and early death. Compound heterozygous patients have a severe limb-girdle muscular dys …
In patients, the mutation at the homozygous state is associated with a severe congenital muscular dystrophy phenotype invariab …
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.
Sato T, Adachi M, Nakamura K, Zushi M, Goto K, Murakami T, Ishiguro K, Shichiji M, Saito K, Ikai T, Osawa M, Kondo I, Nagata S, Ishigaki K. Sato T, et al. Neuromuscul Disord. 2017 Jan;27(1):45-49. doi: 10.1016/j.nmd.2016.09.014. Epub 2016 Sep 20. Neuromuscul Disord. 2017. PMID: 27818010
Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. ...Gross motor function measure (GMFM), originally developed as a quantitative motor scale for cerebral palsy, can precisely and quantitatively assess motor f …
Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. ...Gross motor fun …
68 results