Corpus Callosum Agenesis Neuronopathy

Corpus Callosum Agenesis Neuronopathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy. Here is the latest research.

July 12, 2020

Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta-analysis

Acta Obstetricia Et Gynecologica Scandinavica
Filomena Giulia SileoFrancesco D'Antonio
December 12, 2019
Case Report
Open Access

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum

Frontiers in Genetics
Ying JiangQiong Luo
January 9, 2021

Congenital Mirror Movements Associated With Brain Malformations

Journal of Child Neurology
Andreea NissenkornLubov Blumkin
November 29, 2020

Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Dilek Gun BilgicFethi Sirri Cam
November 4, 2020
Preprint
Open Access

ACE2 Netlas: In-silico functional characterization and drug-gene interactions of ACE2 gene network to understand its potential involvement in COVID-19 susceptibility

MedRxiv : the Preprint Server for Health Sciences
Gita A PathakRenato Polimanti
May 23, 2020

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

Journal of Medical Genetics
Arisha RasheedAshleigh Schaffer
September 13, 2020
Review
Open Access

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

Brain Sciences
Jagoda HofmanJustyna Paprocka
November 8, 2019
Case Report

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature

American Journal of Medical Genetics. Part a
Lena Sagi-DainHagit Baris Feldman
January 26, 2020

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling

Human Mutation
Xiaomin LiuYongguo Yu
May 10, 2020
Open Access

Klinefelter Syndrome and Corpus Callosum Agenesis

Indian Journal of Pediatrics
Indar Kumar Sharawat, Prateek Kumar Panda
December 17, 2019

Radiological Findings on Structural MRI in Fetal Alcohol Spectrum Disorders and Healthy Controls

Alcoholism, Clinical and Experimental Research
Sarah TreitDerek Emery
August 24, 2019

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Journal of Medical Genetics
Joohyun ParkTobias B Haack
July 1, 2020

Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Neda GhassemiDolores H Pretorius
February 14, 2020

Report of Two Siblings with Andermann Syndrome

Indian Journal of Pediatrics
Vykuntaraju K GowdaSanjay K Shivappa
January 25, 2020
Case Report
Open Access

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Case Reports in Genetics
Cristian PetterMariluce Riegel
August 17, 2020
Open Access

3D facial morphometry in Italian patients affected by Aicardi syndrome

American Journal of Medical Genetics. Part a
Silvia MasnadaItalian Aicardi Study Group
July 4, 2020

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Neuropediatrics
Silvia MasnadaParazzini Cecilia

Sign up to follow this feed and discover related papers.

Related Feeds

3D Cellular Models of Brain and Neurodegeneration

Brain organoids are three-dimensional in vitro cellular models of the brain that can recapitulate many processes such as the neurodevelopment. In addition, these organoids can be combined with other cell types, such as neurons and astrocytes to study their interactions in assembloids. Disease processes can also be modeled by induced pluripotent stem cell-derived organoids and assembloids from patients with neurodegenerative disorders. Discover the latest research on the models here.

ALS & FTD: TDP-43

TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS: Pathogenic Mechanisms

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

ALS: Phenotypes

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized phenotypically by progressive muscle weakness. Clinical phenotypes of ALS can be classified based on the pattern, level, and area of onset (e.g. bulbar, cervical, lumbar). Here is the latest research investigating phenotypes of ALS.

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here is the latest research on ALS and prions.

ALS: Stress Granules

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by cytoplasmic protein aggregates within motor neurons. TDP-43 is an ALS-linked protein that is known to regulate splicing and storage of specific mRNAs into stress granules, which have been implicated in formation of ALS protein aggregates. Here is the latest research in this field.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS) is associated with the death of neurons that control voluntary muscles. This feed followes the latest research into therapies for this progressive neurodegenerative disease.

Age-related Dementia

Dementias are a group of conditions, including Alzheimer's disease, vascular dementia, and frontotemporal dementia, characterized by deficiencies in cognitive abilities. Age-related dementia refers to dementias that occur in older individuals, usually 60+ years old, in contrast to early-onset dementia. Follow the latest research on age-related dementia here.

Alexander Disease

Alexander disease is a rare leukodystrophy caused by mutations in the astrocyte-specific intermediate filament protein glial fibrillary acidic protein (GFAP). Here is the latest research on this disease.

© 2021 Meta ULC. All rights reserved
/feed-previews/corpus-callosum-agenesis-neuronopathy/fbb95520-b3d7-40e2-be26-15715eef95a6