[HTML][HTML] L1 Syndrome
C Stumpel, YJ Vos - 2021 - europepmc.org
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three
clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius …
clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius …
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome
Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have
varying degrees of severity in their mobility, hand use, developmental skills, and …
varying degrees of severity in their mobility, hand use, developmental skills, and …
L1CAM variants cause two distinct imaging phenotypes on fetal MRI
Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental
counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses …
counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses …
[HTML][HTML] Functional Relationships between L1CAM, LC3, ATG12, and Aβ
G Loers, U Bork, M Schachner - International Journal of Molecular …, 2024 - mdpi.com
Abnormal protein accumulations in the brain are linked to aging and the pathogenesis of
dementia of various types, including Alzheimer's disease. These accumulations can be …
dementia of various types, including Alzheimer's disease. These accumulations can be …
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
S Gao, X Zhao, G Zhao, P Dai… - Molecular Genetics & …, 2022 - Wiley Online Library
Background The molecular mutations of the L1CAM gene and the imaging appearances of
four fetuses with L1 syndrome from three independent Chinese families with a history of …
four fetuses with L1 syndrome from three independent Chinese families with a history of …
Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities
V Granato, L Congiu, I Jakovcevski, R Kleene… - Biomolecules, 2024 - mdpi.com
The X-chromosome-linked cell adhesion molecule L1 (L1CAM), a glycoprotein mainly
expressed by neurons in the central and peripheral nervous systems, has been implicated in …
expressed by neurons in the central and peripheral nervous systems, has been implicated in …
[HTML][HTML] Severe phenotype in patients with X-linked hydrocephalus caused by a missense mutation in L1CAM
B Tüysüz, AG Ercan-Sençicek, E Özer… - Turkish Archives of …, 2022 - ncbi.nlm.nih.gov
Objective: The study aimed to show the clinical characteristics and prognosis of the L1
syndrome in patients with L1CAM mutations in the extracellular region. Materials and …
syndrome in patients with L1CAM mutations in the extracellular region. Materials and …
[HTML][HTML] L1CAM mutations in three fetuses diagnosed by medical exome sequencing
YT Li, JS Chen, W Jian, YD He, N Li, YN **e… - Taiwanese Journal of …, 2020 - Elsevier
Objective The L1 cell adhesion molecule (L1CAM) gene, encodes the L1 cell adhesion
molecule, is involved in the central nervous system development. Its mutations result in L1 …
molecule, is involved in the central nervous system development. Its mutations result in L1 …
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
TD Gauntner, M Karumuri, MA Guzman… - Clinical Case …, 2021 - Wiley Online Library
L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted
thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung …
thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung …
Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis
Methods Patients with onset of psychosis at age 13 or younger were identified from clinics
across England, and they and their parents were exome sequenced and analysed for …
across England, and they and their parents were exome sequenced and analysed for …