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Quoted phrase not found in phrase index: "Walker-Warburg congenital muscular dystrophy"
Page 1
Walker-Warburg syndrome.
Suthar R, Angurana SK, Singh U, Singh P. Suthar R, et al. Neurol India. 2018 Nov-Dec;66(6):1849-1850. doi: 10.4103/0028-3886.246262. Neurol India. 2018. PMID: 30504606 Free article. 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 malformat …
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy …
Congenital muscular dystrophy: from muscle to brain.
Falsaperla R, Praticò AD, Ruggieri M, Parano E, Rizzo R, Corsello G, Vitaliti G, Pavone P. Falsaperla R, et al. Ital J Pediatr. 2016 Aug 31;42(1):78. doi: 10.1186/s13052-016-0289-9. Ital J Pediatr. 2016. PMID: 27576556 Free PMC article. Review.
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic …
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of …
Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H. Hu P, et al. Mutat Res Rev Mutat Res. 2018 Oct-Dec;778:45-50. doi: 10.1016/j.mrrev.2018.09.002. Epub 2018 Sep 12. Mutat Res Rev Mutat Res. 2018. PMID: 30454682 Review.
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a …
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defectiv …
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.
Agrawal S. Agrawal S. BMJ Case Rep. 2011 Jun 9;2011:bcr0420114102. doi: 10.1136/bcr.04.2011.4102. BMJ Case Rep. 2011. PMID: 22691590 Free PMC article. No abstract available.
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy.
Sato T, Awano H, Ishiguro K, Shichiji M, Murakami T, Shirakawa T, Matsuo M, Nagata S, Ishigaki K. Sato T, et al. Neuromuscul Disord. 2021 Mar;31(3):194-197. doi: 10.1016/j.nmd.2021.01.005. Epub 2021 Jan 13. Neuromuscul Disord. 2021. PMID: 33563515
Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy in Japan. ...Urinary titin concentration is elevated in patients with Duchenne muscular dystrophy (DMD) compared to norma …
Fukuyama congenital muscular dystrophy (FCMD) is the second most prevalent childhood-onset muscular dystrophy …
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 …
Walker-Warburg syndrome.
Rhodes RE, Hatten HP Jr, Ellington KS. Rhodes RE, et al. AJNR Am J Neuroradiol. 1992 Jan-Feb;13(1):123-6. AJNR Am J Neuroradiol. 1992. PMID: 1595429 Free PMC article.
The Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by lissencephaly, cerebellar and retinal malformations, and congenital muscular dystrophy. We report a new case of WWS identified with the aid of crani …
The Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by lissencephaly, cerebellar and …
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 …
180 results