A developmental and genetic classification for malformations of cortical development: update 2012
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …
TUBA1A mutation-associated lissencephaly: case report and review of the literature
APS Sohal, T Montgomery, D Mitra, V Ramesh - Pediatric neurology, 2012 - Elsevier
Lissencephaly is a disorder of neuronal migration resulting in abnormal cerebral cortical
sulcation and gyration. Affected children present with microcephaly, developmental delay …
sulcation and gyration. Affected children present with microcephaly, developmental delay …
Tau's role in the developing brain: implications for intellectual disability
T Sapir, M Frotscher, T Levy… - Human molecular …, 2012 - academic.oup.com
Microdeletions encompassing the MAPT (Tau) locus resulting in intellectual disability raised
the hypothesis that Tau may regulate early functions in the developing brain. Our results …
the hypothesis that Tau may regulate early functions in the developing brain. Our results …
A novel mutation in the β‐tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance
R Romaniello, A Tonelli, F Arrigoni… - … Medicine & Child …, 2012 - Wiley Online Library
Neurological disorders characterized by abnormal neuronal migration, organization, axon
guidance, and maintenance have recently been associated with missense and splice‐site …
guidance, and maintenance have recently been associated with missense and splice‐site …
[HTML][HTML] Developmental disorders of the midbrain and hindbrain
AJ Barkovich - Frontiers in neuroanatomy, 2012 - frontiersin.org
Malformations of the midbrain (MB) and hindbrain (HB) have become topics of considerable
interest in the neurology and neuroscience literature in recent years. The combined …
interest in the neurology and neuroscience literature in recent years. The combined …
Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary
A Mokánszki, I Körhegyi, N Szabó… - Journal of Child …, 2012 - journals.sagepub.com
The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria)
convolutions to less severe malformation known as subcortical band heterotopia. Mutations …
convolutions to less severe malformation known as subcortical band heterotopia. Mutations …
Periventricular heterotopia: shuttling of proteins through vesicles and actin in cortical development and disease
VL Sheen - Scientifica, 2012 - Wiley Online Library
During cortical development, proliferating neural progenitors exhibit polarized apical and
basolateral membranes that are maintained by tightly controlled and membrane‐specific …
basolateral membranes that are maintained by tightly controlled and membrane‐specific …
Cortical dysplasia: a possible substrate for brain tumors
S Liu, C Zhang, H Shu, D Wion, H Yang - Future Oncology, 2012 - Taylor & Francis
The similarities between brain tumor stem cells and neural stem cells suggest a possible
stem cell origin of tumorigenesis. Recently, cells with features of stem cells have been …
stem cell origin of tumorigenesis. Recently, cells with features of stem cells have been …
Tubulin-related malformations of cortical development
XH Jaglin, J Chelly, N Bahi-Buisson - Cytoskeleton and Human Disease, 2012 - Springer
The importance of the microtubule cytoskeleton during in utero brain development has
emerged from a body of functional and genetic studies and was recently strengthened by the …
emerged from a body of functional and genetic studies and was recently strengthened by the …
Unusual ribbon‐like periventricular heterotopia with congenital cataracts in a Japanese girl
R Tsuburaya, M Uematsu, A Kikuchi… - American Journal of …, 2012 - Wiley Online Library
Periventricular heterotopia (PH), clumps of neurons mislocated beside the ventricle, is
caused by failure to initiate migration during embryogenesis. We report on a 32‐month‐old …
caused by failure to initiate migration during embryogenesis. We report on a 32‐month‐old …