Results 101 to 110 of about 7,495 (203)

Diagnostic features and clinical signs of 21 patients with lissencephaly type 1 [PDF]

, 1990
Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 patients with
Barth, P. G., de Rijk-van Andel, J. F., Arts, W. F., Loonen, M. C.   +3 more
core  

X-linked lissencephaly in an Indian family [PDF]

, 2003
Neuronal migration disorders are an important differential diagnosis to be considered in the evaluation of intractable epilepsy. Though the underlying causative factors which govern their development are many and varied, genetic factors have been found ...
M. Tripathi, S. Panda, P. Sharma, S. Jain   +3 more
core   +2 more sources

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., GUEDES CÁSSIA R., DOMINGUES ROMEU C., VIANNA RAUL N. G., SOTERO MARCIO, VIEIRA MÔNICA M.   +5 more
doaj  

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Epilepsy & Behavior Reports
Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations.
Nga Ying Eng, Duyu A. Nie
doaj   +1 more source

An in vitro model of lissencephaly: Expanding the role of DCX during neurogenesis [PDF]

, 2018
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe ...
Pronk, R J, Anderli, B-M, Jahan, Salma, Day, K, Moslem, M, Lam, M, Falk, R, Linker, S B, Shahsavani, M, Schuster, J   +9 more
core  

[Polysomnography on lissencephaly].

No to hattatsu = Brain and development, 1984
Hiura, Kyoichi, Hashimoto, Toshiaki, Fukuda, Kuniaki, Endo, Shoichi, Tayama, Masanobu, Mori, Akio, Miyao, Masuhide, Fujino, Kayo   +7 more
openaire   +2 more sources

Perioperative Care of a Child With Miller-Dieker Syndrome. [PDF]

J Med Cases
Currier SA, Relland LM, Tobias JD.
europepmc   +1 more source

Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders. [PDF]

Cells
Achkasova KA, Subbotin PV, Zhukov VV, Filat'eva AE, Tarabykin VS, Kondakova EV.   +5 more
europepmc   +1 more source

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging. [PDF]

Neuroradiology
AlRayahi J, AlDasuqi K, AlSubhi M, Mubarak W, Al Walid O.   +4 more
europepmc   +1 more source