Results 191 to 200 of about 3,402 (231)

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations. [PDF]

Acta Neuropathol
Tsai MH, Ke HC, Lin WC, Nian FS, Huang CW, Cheng HY, Hsu CS, Granata T, Chang CH, Castellotti B, Lin SY, Doniselli FM, Lu CJ, Franceschetti S, Ragona F, Hou PS, Canafoglia L, Tung CY, Lee MH, Wang WJ, Tsai JW.   +20 more
europepmc   +1 more source

Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7. [PDF]

Genes Dis
Yang A, Kong X, Wang Q, Miao R, Ma H, Chu A, Wang Z, Lu J, Liu B, Mu B, Guo R, Li J, Gongye X, Xiong H, Zhong T.   +14 more
europepmc   +1 more source

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Pachygyria: CT findings.

American Journal of Roentgenology, 1992
WOS ...
Dagdeviren, A, Sener, Rn, Akyol, R
openaire   +4 more sources

Non‐ketotic hyperglycinaemia presenting as pachygyria [PDF]

Journal of Inherited Metabolic Disease, 1995
SummaryA 2‐day‐old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scand. Increased concentrations of glycine in plasma and CSF, together with an increased CSF/plasma ratio, confirmed a clinical diagnosis of non‐ketotic hyperglycinaemia.
Fletcher, Janice M., Bye, A. M. E., Nayanar, V., Wilcken, Bridget   +3 more
openaire   +3 more sources

Pachygyria/hypogenitalism: A monogenic syndrome

American Journal of Medical Genetics, 1999
We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.
Shyam S. Agarwal, Mandakini Pradhan, Shubha R. Phadke, Suruchi Jain   +3 more
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Hot water epilepsy with pachygyria

Neurological Sciences, 2011
Hot water epilepsy (HWE) refers to a specific type of reflex epilepsy precipitated by the stimulus of bathing in hot water. Pathogenesis is still unknown and temporal lobe has been thought to take part in the epileptogenesis. HWE can be symptomatic of focal cortical malformation, and few cases were reported.
Fethi Jemli, Imen Kacem, Amina Gargouri, Istabrak Abdelkefi, Mouna Ben Djebara, Riadh Gouider, Yosr Hizem   +6 more
openaire   +3 more sources

Agyria-Pachygyria (Lissencephaly Syndrome)

Neuropediatrics, 1976
A clinico-pathological report is given on 4 cases of agyria (premature neonate to age 13 months), 3 cases of pachygyria (aged 2,5 to 4,3 years) and a boy aged 4,5 years with temporal pachygyria and frontal microgyrias. Clinical features, more pronounced in agyria than in pachygyria, were microcephaly, frequent facial anomalies, neonatal feeding ...
A. Rett, K. Jellinger
openaire   +3 more sources

Autosomal recessive frontotemporal pachygyria

American Journal of Medical Genetics Part A, 2003
AbstractPachygyria is a cortical malformation that results from the abnormal migration of neurons. Regions of the brain with pachygyria have an abnormally thick cortex that lacks normal folding and has deficient layering. We describe three siblings, born to nonconsanguineous Mexican parents, who have bilateral frontotemporal pachygyria without ...
Dorian Ramirez, Edward J. Lammer, Edward J. Lammer, Caroline B. Johnson, Cynthia D. Peterson   +4 more
openaire   +3 more sources

Ependymal Abnormalities in Lissencephaly/Pachygyria

Journal of Neuropathology and Experimental Neurology, 1993
The ependyma was examined in eight children with neuroblast migratory disorders of diverse origin: three cases of lissencephaly type 1 with severe to mild degrees of agyria/pachygyria, four cases of lissencephaly type 2 in Fukuyama muscular dystrophy and the Walker-Warburg syndrome, and one case of hemimegalencephalic pachygyria.
Rowena Korobkin, Peter G. Barth, Makiko Osawa, Husam Darwish, Keiko Shishikura, Harvey B. Sarnat, Cynthia L. Trevenen, Suresh Kotagal, Alfredo Pinto   +8 more
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