Results 11 to 20 of about 11,022 (215)

Lissencephaly [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1976
SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either ...
M G, Norman, M, Roberts, J, Sirois, L J, Tremblay   +3 more
openaire   +2 more sources

Hind Brain Agenesis A Rare Imaging Findings In Cerebro Cerebellar Lissencephalic Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2014
A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly).
Praveen M. Mundaganur, Pradeep Solwalkar, Vishal Nimbal   +2 more
doaj   +1 more source

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Tokyo Women's Medical University Journal, 2020
Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified.
Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto   +5 more
doaj   +1 more source

Prenatal diagnosis of lissencephaly: A case report [PDF]

Vojnosanitetski Pregled, 2016
Introduction. Lissencephaly (“smooth brain”) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children.
Cerovac Nataša, Terzić Milan, Borković Milan, Divac Nevena, Stojanović Radan, Prostran Milica   +5 more
doaj   +1 more source

CENP-F stabilizes kinetochore-microtubule attachments and limits dynein stripping of corona cargoes [PDF]

, 2020
Accurate chromosome segregation demands efficient capture of microtubules by kinetochores and their conversion to stable bioriented attachments that can congress and then segregate chromosomes.
Allan, Andrew D. McAinsh, Auckland, Bancroft, Baumbach, Berto, Berto, Bolhy, Bomont, Chan, Ciossani, Currie, DeSantis, Dix, Dudka, Emanuele Roscioli, Etemad, Faulkner, Feng, Filges, Gama, Gassmann, Gutierrez, Haley, Helena Louise Elvidge Coker, Helgeson, Hoffman, Holt, Howell, Huang, Huis In ’t Veld, Johnson, Kanfer, Kanfer, Klinman, Kuhn, Liu, Magidson, Magidson, Maiato, McEwen, McEwen, McKinley, Meraldi, Monda, Moughamian, Musacchio, Musacchio, Musinipally, Olenick, Olziersky, Pandey, Pereira, Peterka, Philip Auckland, Raaijmakers, Ran, Rattner, Rodriguez-Rodriguez, Roscioli, Sacristan, Samejima, Schmidt, Shao, Shrestha, Siller, Simões, Stehman, Tai, Thrower, Toropova, Vagnoni, Vergnolle, Volkov, Wojcik, Wynne, Wynne, Wynne, Yang, Yi, Zhu   +80 more
core   +1 more source

Lissencephaly in Shih Tzu dogs

Acta Veterinaria Scandinavica, 2020
Background Lissencephaly is a brain malformation characterized by smooth and thickened cerebral surface, which may result in structural epilepsy. Lissencephaly is not common in veterinary medicine.
Diego Noé Rodríguez-Sánchez, Giovana Boff Araujo Pinto, Edval Fernando Thomé, Vânia Maria de Vasconcelos Machado, Rogério Martins Amorim   +4 more
doaj   +1 more source

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
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 ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene

Acta Médica Portuguesa, 2022
Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be ...
Rita Rosado Santos, Márcia Rodrigues, Teresa Loureiro   +2 more
doaj   +1 more source

Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly

Frontiers in Cell and Developmental Biology, 2019
The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into ...
Lana Vasung, Lana Vasung, Arthur Rezayev, Arthur Rezayev, Hyuk Jin Yun, Hyuk Jin Yun, Jae W. Song, Andre van der Kouwe, Natalie Stewart, Natalie Stewart, Arthi Palani, Arthi Palani, Tadashi Shiohama, Tadashi Shiohama, Tadashi Shiohama, Francois Chouinard-Decorte, Jacob Levman, Jacob Levman, Jacob Levman, Emi Takahashi, Emi Takahashi   +20 more
doaj   +1 more source