Feed Preview

Batten Disease

Batten Disease diagram by Sawiak et al, PLOS One
Sawiak et al, PLOS One

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipfuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease. Discover more here.

Top 20 most recent papers
ACS Nano

Nanoparticles Encapsulating Nitrosylated Maytansine to Enhance Radiation Therapy

ACS NanoJanuary 16, 2020
Shi GaoAnil Kumar
Neuroepidemiology

The Reconstructed Cohort Design: A Method to Study Rare Neurodegenerative Diseases in Population-Based Settings

NeuroepidemiologyJanuary 8, 2020
Giancarlo LogroscinoMarco Piccininni
1
The Journal of General Physiology

Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA

The Journal of General PhysiologyJanuary 23, 2020
Kevin M TylockRobert T Dirksen
2
Nucleic Acids Research

AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1

Nucleic Acids ResearchJanuary 23, 2020
Ewa Stepniak-KoniecznaKrzysztof Sobczak
4
Ophthalmology Retina

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Ophthalmology RetinaJanuary 14, 2020
Genevieve A WrightMichel Michaelides
21
2
Molecular Genetics & Genomic Medicine

A case report of genetic prion disease with two different PRNP variants

Molecular Genetics & Genomic MedicineJanuary 19, 2020
Megan PiazzaBrian Appleby
2
HeartRhythm Case Reports

Paper-like bilateral sternocleidomastoid muscle atrophy may suggest the occurrence of sustained ventricular tachycardia

HeartRhythm Case ReportsJanuary 21, 2020
Keiji MatsunagaTetsuo Minamino
4
1
Biochimica Et Biophysica Acta. Molecular Basis of Disease

Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?

Biochimica Et Biophysica Acta. Molecular Basis of DiseaseJanuary 12, 2020
Jonathan D Cooper, Sara E Mole
8
Bioorganic & Medicinal Chemistry Letters

Development of novel small molecules for the treatment of ALS

Bioorganic & Medicinal Chemistry LettersJanuary 14, 2020
Bini MathewMark J Suto
1
The Turkish Journal of Pediatrics

Giant axonal neuropathy: A differential diagnosis of consideration

The Turkish Journal of PediatricsJanuary 18, 2020
Pınar EdemUluç Yiş
Neurological Research

Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1

Neurological ResearchJanuary 18, 2020
Jia SongJiewen Zhang
2
Journal of the American Heart Association

Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting

Journal of the American Heart AssociationJanuary 15, 2020
Anish NikhanjGavin Y Oudit
7
Yeast

Functional inter-relationships between carbohydrate and lipid storage, and mitochondrial activity during sporulation in S. cerevisiae

YeastJanuary 22, 2020
Yanjie LiuAndreas Doncic
3
Cell Research

New myotonic dystrophy type 1 mouse model

Cell ResearchJanuary 19, 2020
Yunping Lei, Richard H Finnell
European Journal of Human Genetics : EJHG

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

European Journal of Human Genetics : EJHGJanuary 11, 2020
Ivana JedličkováAdult NCL Gene Discovery Consortium
3
Journal of Neuroradiology. Journal De Neuroradiologie

Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings

Journal of Neuroradiology. Journal De NeuroradiologieJanuary 1, 2020
Fumio SuzukiOsamu Abe
Frontiers in Neurology

Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2* Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla

Frontiers in NeurologyJanuary 11, 2020
Sevda AtesBarbara Bellenberg
5
Rinshō shinkeigaku = Clinical neurology

Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey

Rinshō shinkeigaku = Clinical neurologyJanuary 21, 2020
Masanori P TakahashiTsuyoshi Matsumura
2
EBioMedicine

Structural insights and activating mutations in diverse pathologies define mechanisms of deregulation for phospholipase C gamma enzymes

EBioMedicineJanuary 10, 2020
Yang LiuMatilda Katan
2
Neuromuscular Disorders : NMD

Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy

Neuromuscular Disorders : NMDJanuary 7, 2020
E PasseriS Corbetta
2

See more papers from this feed

Related Feeds

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS & FTD: TDP-43

ALS shares with a considerable proportion of FTD cases the same neuropathological substrate, namely, inclusions of abnormally phosphorylated protein tdp-43 (ptdp-43). Here are the latest discoveries pertaining to ptdp-43 and these diseases.

ALS - Pathogenic Mechanisms

Amyotrophic lateral sclerosis (ALS) 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 progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating phenotypes associated with this genetically heterogeneous disorder.

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: 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 are the latest discoveries pertaining to this disease.

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.

ALS: Therapies

Amyotrophic Lateral Sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS therapies here.

ALS: Transposon de-silencing

Transposon silencing is a form of transcriptional gene silencing. These gene silencing mechanisms are impaired in Amyotrophic lateral sclerosis (ALS). Here are the latest discoveries pertaining to transposon silencing and this disease.

Acute Disseminated Encephalomyelitis

Acute disseminated encephalomyelitis (ADEM) is a rare inflammatory demyelinating disease of the central nervous system. Discover the latest research on acute disseminated encephalomyelitis here.

© 2020 Meta ULC. All rights reserved
/feed-previews/batten-disease/5c43ffe6-3814-414e-a827-a9aa4c9c2ecf