Results 171 to 180 of about 696,850 (305)

Penetrating injuries of the posterior dural venous sinuses: a systematic review of injury mechanisms and repair techniques. [PDF]

Front Neurol
Qureshi K, Yangi K, Gok E, Olson JT, Prince JE, Goyal M, Preul MC.   +6 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Insights into the neural mechanisms underlying hand praxis: implications for the neurocognitive rehabilitation of apraxia

Frontiers in Psychology, 2014
Jorge eOliveira, Rodrigo eBrito
doaj   +1 more source

Hemispheric consistency in language production, comprehension, and reading in typically and atypically lateralized left-handers: Implications for reading performance. [PDF]

Imaging Neurosci (Camb)
Villar-Rodríguez E, Baena-Pérez M, Cano-Melle C, Nicolae A, Marin-Marin L, Avila C.   +5 more
europepmc   +1 more source

Accesibilidad cognitiva: una herramienta para la inclusión de las personas con daño cerebral adquirido. Versión en lectura fácil

Este documento será útil para organizaciones y profesionales que quieran mejorar la accesibilidad cognitiva de sus espacios y documentos, para personas con daño cerebral adquirido.

core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Flow Diversion in Fetal-Type Posterior Communicating Artery Aneurysms: Anatomical Challenges and Treatment Strategy. [PDF]

J Neuroendovasc Ther
Nishi H, Ishii A.
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Early Electroencephalographic Background Evolution as a Predictor of Airway Outcomes in Severe Traumatic Brain Injury: A Pilot Study. [PDF]

Indian J Crit Care Med
Qadri A, Maiti SN, Khan EA, Bukhari I, Wani D.   +4 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source