Results 91 to 100 of about 133,752 (286)

Agenesis of the corpus callosum in a newborn with Turner mosaicism

Pediatric Reports, 2014
The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations.
Ester Pereira, Monica Rebollo Polo, Jordi Muchart López, Thais Agut Quijano, Alfredo García-Alix, Carmen Fons   +5 more
doaj   +1 more source

Description of interhemispheric disconnection syndrome in a patient with Marchiafava-Bignami disease [PDF]

, 2013
Interhemispheric disconnection syndrome (IDS), described by Sperry, Gazzaniga and Bogen, is characterized by the presence of visual and tactile anomia, absence of interhemispheric transference of unilateral somatosensory stimulation of both hands ...
Gómez, Pablo Guillermo, Politis, Daniel Gustavo, Tabernero, María Eugenia, Tirigay, Romina Mara   +3 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Myelin Water Imaging and Transcranial Magnetic Stimulation Suggest Structure-Function Relationships in Multiple Sclerosis

Frontiers in Physics, 2019
Demyelination can be assessed structurally by magnetic resonance imaging (MRI) and functionally with transcranial magnetic stimulation (TMS). Here, we combined these techniques to investigate demyelination of the corpus callosum in multiple sclerosis (MS)
Eric Y. Zhao, Irene M. Vavasour, Marjan Zakeri, Michael R. Borich, Cornelia Laule, Cornelia Laule, Cornelia Laule, Cornelia Laule, Alexander Rauscher, Alexander Rauscher, Alexander Rauscher, Anthony Traboulsee, David K. B. Li, David K. B. Li, Lara A. Boyd, Alex L. MacKay, Alex L. MacKay   +16 more
doaj   +1 more source

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK, Keating, MK, Lyons, LA, Sisó, S, Sturges, BK, Wisner, ER   +5 more
core  

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Brain asymmetries related to language with emphasis on entorhinal cortex and basal forebrain [PDF]

, 2006
Anatomical asymmetries of the human brain are important in at least four respects: 1) they can serve as potential indicators of the evolutionary foundations of language, 2) they can be used for comparative analysis of neural specializations for ...
Hof, Patrick R., Judaš, Miloš, Mladinov, Mihovil, Šimić, Goran   +3 more
core  

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Intrinsic organization of the corpus callosum

Frontiers in Physiology
The corpus callosum—the largest commissural fiber system connecting the two cerebral hemispheres—is considered essential for bilateral sensory integration and higher cognitive functions. Most studies exploring the corpus callosum have examined either the
Paolo Barbaresi, Mara Fabri, Teresa Lorenzi, Andrea Sagrati, Manrico Morroni   +4 more
doaj   +1 more source