Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

June 20, 2021
Open Access

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy

MedRxiv : the Preprint Server for Health Sciences
S. N. ManivannanH. J. Bellen
June 19, 2021

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.

Journal of Inherited Metabolic Disease
Heiko BrennenstuhlAdditional individual contributors of the Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the Euro
June 18, 2021
Open Access

Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

Frontiers in Neurology
Federica Rachele DantiGiovanna Zorzi
June 17, 2021

Making sense of mRNA landscapes: Translation control in neurodevelopment.

Wiley Interdisciplinary Reviews. RNA
Yongkyu ParkMladen-Roko Rasin
June 17, 2021
Open Access

Whole-Exome Sequencing Analysis of Oral Squamous Cell Carcinoma Delineated by Tobacco Usage Habits.

Frontiers in Oncology
Krishna PatelAditi Chatterjee
June 17, 2021
Case Report
Open Access

The cardiomyopathy of Friedreich's ataxia common in a family: A case report.

Annals of Medicine and Surgery
Omidreza AminiZohreh Sarchahi
June 17, 2021
Open Access

The Immunomodulating Effect of Baicalin on Inflammation and Insulin Resistance in High-Fat-Diet-Induced Obese Mice.

Evidence-based Complementary and Alternative Medicine : ECAM
Ji-Won NohByung-Cheol Lee
June 17, 2021

Sensory ataxia with cranial nerve palsies.

Practical Neurology
Alexander GrundmannJames Miller
June 17, 2021
Open Access

Prostate cancer-associated SPOP mutations lead to genomic instability through disruption of the SPOP-HIPK2 axis.

Nucleic Acids Research
Xiaofeng JinKun Gao
June 17, 2021
Open Access

Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia.

Arquivos de neuro-psiquiatria
Cristina Saade JaquesOrlando G P Barsottini
June 17, 2021

Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Zsofia K StadlerMark E Robson
June 15, 2021
Open Access

The Attitude of Patients with Progressive Ataxias Towards Clinical Trials

Gilbert Thomas-BlackPaola Giunti
June 15, 2021

Quantitative Evaluation of Cerebellar Function in Multiple System Atrophy with Transcranial Magnetic Stimulation.

The Cerebellum
Yuichiro ShirotaYoshikazu Ugawa
June 15, 2021

Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders.

Molecular Psychiatry
Alexis Lupien-MeilleurElsa Rossignol
June 15, 2021

John Goodsir (1814-1867) and his neurological illness.

Journal of Medical Biography
Iain MacintyreAndreas K Demetriades

Sign up to follow this feed and discover related papers.

Related Feeds

Alpha-Synuclein Aggregation (MDS)

Alpha-synucleins are small proteins that are believed to restrict the mobility of synpatic vesicles and inhibit neurotransmitter release. Aggregation of these proteins have been linked to several types of neurodegenerative diseases including dementia with Lewy bodies and Parkinson's disease. Here is the latest research on α-synuclein aggregation.

Alpha-Synuclein Antibody Therapeutics (MDS)

Alpha-synuclein is an integral component of Lewy bodies which are comprised of protein clumps and are a pathological hallmark of Parkinson’s disease. They have also been detected in several other neurodegenerative diseases, known as synucleopathies. Here is the latest research on alpha-synuclein antibody therapeutics.

Astrocytes & Huntington’s Disease (MDS)

Astrocytes are abundant within the central nervous system and their dysfunction has been thought to be an important contributor to some neurodegenerative diseases, in particular Huntington’s disease. Damage to these cells may make neurons more susceptible to degeneration. Here is the latest research on astrocytes and Huntington’s disease.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Atypical Parkinsonism (MDS)

Atypical Parkinsonism presents with the same signs and symptoms of Parkinson's disease, but do not respond to typical Parkionson's disease treatment with levodopa. Atypical Parkinsonism is thought to be associated with abnormal protein buildup within brain cells. Here is the latest on Atypical Parkinsonism.

Basal ganglia in Parkinson's disease (MDS)

The basal ganglia is comprised of the neostriatum, the external and internal pallidal segments, the subthalamic nucleus, the substantia nigra pars reticulata, and the pars compacta of the substantia nigra. The basal ganglia circuitry is responsible for the correct execution of voluntary movements and is implicated in Parkinson's disease. Here is the latest research investigating the basal ganglia in Parkinson's disease.

Bovine Spongiform Encephalopathy (MDS)

Bovine spongiform encephalopathy is a neurodegenerative disease belonging to the transmissible spongiform encephalopathies, a group of diseases including sheep scrapie and human Creutzfeldt-Jakob disease. Here is the latest research.

Brain Imaging of Neural Circuits (MDS)

Neural circuits are groups of interconnected neurons which carry out specific functions when activated. Imaging these neural circuits allows researches to further elucidate their mechanisms and functions. Follow this feed to stay up to date on brain imaging of neural circuits.

Cerebral Palsy & Spasticity (MDS)

Spactic cereberal palsy is one of the most common types of cerebral palsy that stems from an upper motor neuron lesion in the brain. Discover the latest research on cerebral palsy and spasticity here.

Cervical Dystonia (MDS)

Cervical dystonia, or spasmodic torticollis, is a neurological disorder in which involuntary muscle contractions in the neck cause abnormal head and neck movements. Current treatment options include botulinum toxin injections, oral medications, and surgery. Find the latest research on cervical dystonia here.

© 2021 Meta ULC. All rights reserved