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

Year Number of Results
1996 1
2002 1
2005 1
2006 1
2007 2
2008 2
2009 2
2010 1
2013 1
2014 1
2016 1
2017 1
2021 1
2022 1
2024 0

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15 results

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Page 1
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 variant.
Pabuşçu Y, Bulakbasi N, Kocaoğlu M, Uçöz T. Pabuşçu Y, et al. Comput Med Imaging Graph. 2002 Nov-Dec;26(6):453-8. doi: 10.1016/s0895-6111(02)00026-5. Comput Med Imaging Graph. 2002. PMID: 12453509
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S. Schröter J, et al. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35017693 Free PMC article.
We here present a multicenter case series of ten unrelated individuals from four European countries using systematic MRI re-evaluation, protein structure analysis, and prediction score modeling. In two cases, pregnancy was terminated due to brain malformations. ...Assessme …
We here present a multicenter case series of ten unrelated individuals from four European countries using systematic MRI re-evaluation, prot …
Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.
Tonni G, Pattacini P, Bonasoni MP, Araujo Júnior E. Tonni G, et al. Rev Bras Ginecol Obstet. 2016 Apr;38(4):201-6. doi: 10.1055/s-0036-1582126. Epub 2016 Apr 18. Rev Bras Ginecol Obstet. 2016. PMID: 27088705 Free PMC article. Review.
Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and ante …
Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the di …
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD. Brun BN, et al. Neurology. 2017 Feb 14;88(7):623-629. doi: 10.1212/WNL.0000000000003609. Epub 2017 Jan 13. Neurology. 2017. PMID: 28087826 Free PMC article.
CONCLUSIONS: Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, and brainstem bowing are hallmarks of DG and should prompt consideration of these diagnoses. Brain imaging in individuals with DG helps to predict …
CONCLUSIONS: Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, and brainstem …
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J. Bahi-Buisson N, et al. Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7. Brain. 2010. PMID: 20929962
The 14 patients with GPR56 mutations (median 8.25 years, range 1.5-33 years) were phenotypically homogeneous with a distinctive clinical course characterized by pseudomyopathic behaviour at onset that subsequently evolved into severe mental and motor retardation. ...
The 14 patients with GPR56 mutations (median 8.25 years, range 1.5-33 years) were phenotypically homogeneous with a distinctive clinical …
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
Goergen SK, Alibrahim E, Christie J, Dobrotwir A, Fahey M, Fender L, Frawley K, Manikkam SA, Pinner JR, Sinnott S, Romaniello R, Sandaradura SA, Taylor J, Vasudevan A, Righini A. Goergen SK, et al. AJNR Am J Neuroradiol. 2021 Aug;42(8):1528-1534. doi: 10.3174/ajnr.A7131. Epub 2021 May 6. AJNR Am J Neuroradiol. 2021. PMID: 33958329 Free PMC article.
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
Yoshioka M, Higuchi Y, Fujii T, Aiba H, Toda T. Yoshioka M, et al. Brain Dev. 2008 Jan;30(1):59-67. doi: 10.1016/j.braindev.2007.05.012. Epub 2007 Jun 26. Brain Dev. 2008. PMID: 17597323
It was concluded mutational analysis of the FCMD gene could predict seizure prognosis. Heterozygotes usually developed seizures earlier than homozygotes and some heterozygotes showed intractable seizures. Mutational analysis other than of the 3 kb insertion may also …
It was concluded mutational analysis of the FCMD gene could predict seizure prognosis. Heterozygotes usually developed seizure …
Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy.
Yoshioka M, Higuchi Y. Yoshioka M, et al. J Child Neurol. 2005 Apr;20(4):385-91. doi: 10.1177/08830738050200041901. J Child Neurol. 2005. PMID: 15921243
We examined 46 patients with Fukuyama-type congenital muscular dystrophy and followed their progress for more than 3 years, with special reference to long-term prognosis of seizure disorders and the relationship between seizures and neuropathologic abnormalities. ...
We examined 46 patients with Fukuyama-type congenital muscular dystrophy and followed their progress for more than 3 years, with special ref …
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Hehr U, et al. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881
Therefore, we conclude that the type and position of the POMGnT1 mutations are not of predictive value for the clinical severity. This supports the notion that additional environmental and/or genetic factors may contribute to the observed broad spectrum of POMGnT1-associat …
Therefore, we conclude that the type and position of the POMGnT1 mutations are not of predictive value for the clinical severity. Thi …
15 results