Results 161 to 170 of about 3,008,300 (288)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Endoscopically Treated Third Ventricle Colloid Cysts: A Systematic Review of Surgical and Clinical Outcomes. [PDF]

Clin Pract
Agosti E, Antonietti S, Viola M, Fontanella MM, Fiorindi A.   +4 more
europepmc   +1 more source

Considerations on surgical strategies and associated risk profiles for endoscopic tumor biopsies within the third ventricle and periaqueductal region. [PDF]

Childs Nerv Syst, 2023
Teping F, Oertel J.
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Carry-Over Factor of Zearalenone in the Roof of the Third Ventricle of the Brain and Selected Skeletal Muscles During Low-Dose Zearalenone Mycotoxicosis in Prepubertal Gilts. [PDF]

Toxins (Basel)
Gajęcka M, Zielonka Ł, Gajęcki MT.
europepmc   +1 more source

Velum interpositum and subarachnoid space above third ventricle

, 1997
Velum interpositum and subarachnoid space above third ventricle. Coronal plane.

core  

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

A novel method of fabricating dynamic, heterogenous benchtop lateral and third ventricle phantoms from MRI of hydrocephalus patients: a verification and validation study. [PDF]

Fluids Barriers CNS
Gura B, Faryami A, Roberts C, Harris CA.
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Interhemispheric-Transcortical Approach for Resection of an Atypical Teratoid/Rhabdoid Tumor (AT/RT) of the Left Lateral and Third Ventricle. [PDF]

J Neurol Surg Rep
Chung D, O' Brien PF, Syed H.
europepmc   +1 more source