Results 101 to 110 of about 11,896 (240)
Prenatal Diagnosis, Volume 45, Issue 13, Page 1806-1809, December 2025.
Francesca Romana Lepri +7 more
wiley +1 more source
Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema
American Journal of Perinatology Reports, 2014 Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema.
Linda Mahgoub +3 more
doaj +1 more source
Microtubules gate tau condensation to spatially regulate microtubule functions. [PDF]
, 2019 Tau is an abundant microtubule-associated protein in neurons. Tau aggregation into insoluble fibrils is a hallmark of Alzheimer's disease and other types of dementia1, yet the physiological state of tau molecules within cells remains unclear.
A Ettinger +47 more
core +1 more source
Editor's evaluation: Structures of human dynein in complex with the lissencephaly 1 protein, LIS1
, 2022 Anna Akhmanova
openalex +1 more source
Chromosomal map of human brain malformations [PDF]
, 2018 The etiology of most central nervous system (CNS) malformations remains unknown. We have utilized the fact that autosomal chromosome aberrations are commonly associated with CNS malformations to identify new causative gene loci.
Lurie, Iosif +2 more
core
Human Genomics, 2010 A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of lissencephaly.
Millar David S +8 more
doaj +1 more source
Frontiers in Cellular Neuroscience, 2019 LIS1 is the main causative gene for lissencephaly, while MeCP2 is the main causative gene for Rett syndrome, both of which are neurodevelopmental diseases.
Liraz Keidar +10 more
doaj +1 more source
Midbrain and Hindbrain Involvement in Lissencephaly
Pediatric Neurology Briefs, 2009 Involvement of the midbrain and hindbrain (MHB) in the various groups of lissencephalies was examined in an MRI study of 111 patients (aged 1 day to 32 years; mean 5 years 4 months) studied at University of California San Francisco, and centers in France,
J Gordon Millichap
doaj +1 more source
Walker-Warburg syndrome: report of two cases
Arquivos de Neuro-Psiquiatria, 1999 The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD).They were studied in their clinical, laboratory, and neuroradiologic features.
VASCONCELOS MARCIO M. +5 more
doaj