Results 91 to 100 of about 7,495 (203)

An infant with isolated Lissencephaly

Neurosciences, 2001
Lissencephaly or agyria is a prototype of disorders of neuronal migration, a rare type of hereditary malformation of the brain, which manifests with smooth cerebral surface, poorly defined sylvian fissures with thickened cerebral cortical mantle. A case of an infant with isolated variety is presented highlighting some of the major associated clinical ...
S, Jouini, A S, Al-Awashiz, G I, Izoura
openaire   +2 more sources

ARX mutations in X-linked lissencephaly with abnormal genitalia [PDF]

, 2003
X-linked lissencephaly with abnormal genitalia (XLAG) is a distinct form of lissencephaly associated with absent corpus callosum. Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in ...
Aigner, L., Martin, P., Uyanik, G., Winkler, J., Neumann, D., Marschner-Schäfer, H., Groβ, C., Hehr, U.   +7 more
core   +1 more source

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations [PDF]

, 2018
Background Lissencephaly, or smooth brain, is a severe congenital brain malformation that is thought to be associated with impaired neuronal migration during corticogenesis.
Shofuda, Tomoko, Takanashi, Jun-ichi, Kato, Mitsuhiro, Utsunomiya, Hidetsuna, Kanemura, Yonehiro, Yamasaki, Mami, Pooh, Ritsuko K, Akamatsu, Wado, Bamba, Yohei, Suemizu, Hiroshi, Sumida, Miho, Kanematsu, Daisuke, Gallagher, Denis, Tateishi, Yoko, Miller, Freda D, Higuchi, Yuichiro, Okano, Hideyuki   +16 more
core   +2 more sources

Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I)

The Turkish Journal of Pediatrics, 2007
Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems.
Serdal Güngör, Dilek Yalnizoğlu, Güzide Turanli, Işil Saatçi, Emel Erdoğan-Bakar, Meral Topçu   +5 more
doaj   +1 more source

Classical Lissencephaly associated with dolichocephaly, hair and nail defect. [PDF]

, 2006
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects.
ROTMENSCH S., ZANNOLLI R., SWIFT JA, LIBERATI, Marco, SABATINO, Giuseppe, PALLOTTA, Rosanna, CELENTANO C., DOMIZIO S., COLOSIMO, Cesare, SAPONARI, ANITA, BUONI S.   +10 more
core  

Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs [PDF]

, 2013
Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral ...
Delgado, L., Suárez-Vega, Aroa, Fuertes Franco, Miguel, Miguel Fuertes, Valentín Pérez, Benavides, Julio, Arranz, Juan José, Laetitia Delgado, Julio Benavides, Pérez Pérez, Valentín, Ferreras, Mª del Carmen, M Ferreras, Aroa Suárez-Vega, Juan Arranz   +13 more
core   +1 more source

Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs [PDF]

, 2013
Microtubule-based transport mediates the sorting and dispersal of many cellular components and pathogens. However, the mechanisms by which motor complexes are recruited to and regulated on different cargos remain poorly understood.
Beat Suter, Dzhindzhev, NS, Suter, Beat, Elaine Stephens, Nikola S. Dzhindzhev, Simon L. Bullock, Soundararajan, HC, Ohkura, H, Carly I. Dix, Dix, Carly I, Bullock, SL, Harish Chandra Soundararajan, Farida Begum, Hiroyuki Ohkura, Stephens, E, Begum, F   +15 more
core   +1 more source

SEVERE SEMILOBAR HOLOPROSENCEPHALY AND LISSENCEPHALY ASSOCIATED WITH CEBOCEPHALY IN A NEWBORN [PDF]

, 2012
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn: Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly.
Yurttutan, N., Oguz, S. S., Yurttutan, S., Dilmen, U., Canpolat, F. E., Oncel, M. Y., Ozdemir, R., Erdeve, O.   +7 more
core  

Lissencephaly [PDF]

, 2020
  +5 more sources

PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus

Scientific Reports, 2017
Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development.
Matthew T. Dinday, Kelly M. Girskis, Sunyoung Lee, Scott C. Baraban, Robert F. Hunt   +4 more
doaj   +1 more source