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

Year Number of Results
1985 1
1988 1
1991 1
1992 1
1993 5
1994 1
1995 3
1996 3
1997 1
1998 3
1999 2
2000 1
2001 3
2002 1
2003 3
2004 4
2005 7
2006 2
2007 2
2008 3
2009 2
2011 3
2013 2
2014 2
2015 3
2016 5
2017 2
2018 2
2020 2
2022 1
2023 0

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72 results

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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.
Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM. Varagur K, et al. Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. Neurosurg Clin N Am. 2022. PMID: 34801143 Free PMC article. Review.
In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic craniosynostoses, achondroplasia, NF 1/2, Down's syndrome, tuberous sclerosis, Walker-War …
In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context …
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. ...
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain …
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Toda T, et al. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x. Congenit Anom (Kyoto). 2003. PMID: 12893968 Review.
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. ...
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease a …
Fukutin and alpha-dystroglycanopathies.
Toda T, Chiyonobu T, Xiong H, Tachikawa M, Kobayashi K, Manya H, Takeda S, Taniguchi M, Kurahashi H, Endo T. Toda T, et al. Acta Myol. 2005 Oct;24(2):60-3. Acta Myol. 2005. PMID: 16550916 Review.
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. ...
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease a …
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 lesions but quite variable d …
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, some …
Congenital muscular dystrophies.
Arahata K, Ishii H, Hayashi YK. Arahata K, et al. Curr Opin Neurol. 1995 Oct;8(5):385-90. doi: 10.1097/00019052-199510000-00011. Curr Opin Neurol. 1995. PMID: 8542045 Review.
In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency causes a type of congenital muscular dystrophy, and (2) it has been postulated that Fukuyama-type congenital muscular dystrophy and Walker …
In particular, (1) evidence has accumulated to suggest that a laminin alpha2-chain (alpha2 subunit of laminin-2 or merosin) deficiency cause …
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.
We initially present the main clinical and diagnostic data concerning the CMDs related to changes in the complex dystrophin-associated glycoproteins-extracellular matrix: CMD with merosin deficiency (CMD1A), collagen VI related CMDs (Ullrich CMD and Bethlem myopathy), CMDs with a …
We initially present the main clinical and diagnostic data concerning the CMDs related to changes in the complex dystrophin-associated glyco …
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.
In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal gl …
In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspecti …
72 results