Results 161 to 170 of about 77,935 (264)

Boomerang sign in the corpus callosum and bilateral cerebellar peduncles: CLOCCs plus-a case report. [PDF]

BJR Case Rep
Tarhan G, Sinir B, Findos E, Yasar E.
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

The postnatal expression of transcripts and proteins in the corpus callosum, as well as its myelinization, is affected by the congenital absence of AQP4. [PDF]

J Physiol Biochem
Mayo F, González-Vinceiro L, Hiraldo-González L, Torres-Rubio I, Calle-Castillejo C, Sobh-Doush E, Ramírez-Lorca R, Echevarría M.   +7 more
europepmc   +1 more source

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, EarlyView.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Dynamic changes in the corpus callosum in a case of HIVEP2-related disorder: a case report and literature review. [PDF]

BMC Pediatr
Zhu Z, Ma M, Cui X, Shu J, Liu Y.
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

The Genetic Architecture of the Human Corpus Callosum and its Subregions. [PDF]

Nat Commun
Bhatt RR, Gadewar SP, Shetty A, Ba Gari I, Haddad E, Javid S, Ramesh A, Nourollahimoghadam E, Zhu AH, de Leeuw C, Thompson PM, Medland SE, Jahanshad N.   +12 more
europepmc   +1 more source

Paroxysmal sympathetic hyperactivity secondary to hypoglycemic encephalopathy: A case report

Journal of Diabetes Investigation, EarlyView.
ABSTRACT A 48‐year‐old male was admitted to our hospital due to a hypoglycemic coma. Although his blood glucose level was increased after glucose administration, his impaired consciousness persisted. Magnetic resonance imaging indicated hypoglycemic encephalopathy.
Yushi Kohzuki, Junpei Yamamoto, Yuki Kaminaga, Yoko Kayaba, Hiroshi Onodera, Masahiro Usui   +5 more
wiley   +1 more source

Mapping Human Corpus Callosum Connectivity With Diffusion Spectrum Imaging: A Deterministic Tractography Approach. [PDF]

Brain Behav
Zhang C, Shi JW, Wang ZM, Wei PH, Lu C, Wang YH, Zhang HQ, Fan XT, Shan YZ, Lu J, Ou SQ, Zhao GG.   +11 more
europepmc   +1 more source

The MacBrain Resource Center (MBRC) rhesus macaque postnatal brain histology datasets: Enabling new discoveries through NHP tissue and digital data Repositories

Journal of Anatomy, EarlyView.
The MacBrain Resource Center (MBRC) postnatal rhesus macaque brain histology datasets are organized into Collections that promote cost‐effective de novo research. This article provides examples from Collections 5, 6, and 7 and describes the histo‐ and immunohistochemical (IHC) processing of materials for Collection 6.
Valeria Mendoza‐Silva, Lucy Greene, Emma Burke, Cristina Canales, Julia Chocarro, Jose L. Lanciego, Khuleshwari Kurrey, Phil Barello, Aya Nusir, Nadine Kabbani, Kathleen S. Rockland, Dibyadeep Datta, Jon I. Arellano, Amy F. T. Arnsten, Yury M. Morozov, Bashir Ahmed, Zoltán Molnár, Caroline J. Zeiss, Pasko Rakic, Alvaro Duque   +19 more
wiley   +1 more source