Neurodegenerative diseases genetic neuromuscular diseases. Medical search. Frequent questions

As aging is the primary risk factor for major human diseases, including cancer, diabetes, cardiovascular disorders, and neurodegenerative diseases, it is important to describe and classify the types of changes that it entails. (wikipedia.org)
However, variation in microsatellite size is also the source of devastating disorders, as more than 40 inherited developmental, neuromuscular and neurodegenerative human genetic diseases are caused by microsatellite expansions. (igbmc.fr)
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) and Neuronal Intranuclear Inclusions Disease (NIID) are rare neurodegenerative disorders due to small expansions of GGC repeats located in the 5'UTR of the FMR1 and NOTCH2NLC genes, respectively. (igbmc.fr)
Hopefully, our work will help to clarify the causes and mechanisms of cell dysfunctions in these inherited disorders, but also provides novel cell and animal model to develop innovative therapeutic approaches for these devastating diseases. (igbmc.fr)
Research on neuro-health and neurological, neuromuscular, sensory, neuropsychiatric, cognitive, behavioral and neurodevelopmental function and disorders may span the full range of science from basic to clinical to translation and implementation research. (nih.gov)
Multiple deletions in mtDNA give rise to a variety of neuromuscular symptoms, often associated with genetic inherited disorders and aging and they have been reported in patients with neurodegenerative diseases, such as Parkinson's and Alzheimer's diseases. (openaire.eu)
She deals with female patients having a prenatal diagnosis and couples who have problems associated with reproductive disorders, the study of the causes of fetal defects and neurodegenerative diseases, in particular Huntington's disease, spinocerebral ataxia, neuromuscular diseases and problems associated with metabolic diseases. (fertimedica.pl)
In 2014 she defended her doctoral thesis on genetic disorders affecting mental disorders, cardiac abnormalities and fetal defects. (fertimedica.pl)
Tandem repeat disorders are a family of over 50 inherited diseases, including Huntington's disease and amyotrophic lateral sclerosis (ALS), that seem to occur when short DNA sequences are repeated too many times. (sciencealert.com)
While there's currently no cure for tandem repeat disorders, early diagnosis can help patients manage their symptoms, and hopefully stall some of the disease progression, so the newly developed test should make a big difference to patients. (sciencealert.com)
This new test will completely revolutionize how we diagnose these diseases, since we can now test for all the disorders at once with a single DNA test and give a clear genetic diagnosis," says Kumar, "helping patients avoid years of unnecessary muscle or nerve biopsies for diseases they don't have, or risky treatments that suppress their immune system. (sciencealert.com)
Motor neuron disease (MND) encompasses a group of rapidly progressive and universally fatal neurodegenerative disorders of the human motor system, first described in the mid-19th century by the French Neurologist Jean Martin Charcot. (acnr.co.uk)
More recently, an association between ALS and frontotemporal degeneration (FTD) has been established, suggesting that ALS forms a continuum with primary neurodegenerative disorders, a notion underscored by the identification of the c9orf72 hexanucleotide expansion. (acnr.co.uk)
The purpose of the Clinical Procedures to Support Research in ALS (CAPTURE-ALS) study is to utilize information collected in the medical record to learn more about a disease called amyotrophic lateral sclerosis (ALS) and related disorders. (rarediseasesnetwork.org)
neurodevelopmental, metabolic and neuromuscular disorders. (nih.gov)
While other diseases like Fibromyalgia, Lyme Disease, painful nerve disorders like neuropathy, debilitating migraines, endometriosis, and low energy conditions like chronic fatigue syndrome rob people of the good quality of life that they deserve. (wckgradio.com)
These vesicles carry cargo that can contribute to normal brain function, but in neurological disorders including Parkinson?s and Alzheimer?s Diseases, they can also spread toxic proteins throughout the brain. (grantome.com)
In addition to the acquired causes, inherited disorders like hereditary sensory-autonomic neuropathy (HSAN), familial amyloid polyneuropathy (FAP), Tangier disease, and Fabry disease also exist. (medscape.com)

In multicellular organisms genome instability is central to carcinogenesis, and in humans it is also a factor in some neurodegenerative diseases such as amyotrophic lateral sclerosis or the neuromuscular disease myotonic dystrophy. (wikipedia.org)
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS-FTD) is the third neurodegenerative disease worldwide. (igbmc.fr)
AIMS: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with complex aetiology. (bvsalud.org)
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with an extremely heterogeneous clinical and genetic phenotype. (bvsalud.org)
His major area of research interest is in the field of neurophysiology, neurodegenerative diseases, and neuroimmunology in particular assessment of cortical function in amyotrophic lateral sclerosis and multiple sclerosis. (acnr.co.uk)
Amyotrophic lateral sclerosis (ALS), also referred to as Lou Gehrig's Disease, is a progressive motor neuron disease that leads to problems with muscle control and movement. (rarediseasesnetwork.org)
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). (rarediseasesnetwork.org)
ABSTRACT: Amyotrophic lateral sclerosis (ALS), an incurable, progressive neurodegenerative disorder, is the most common motor neuron disease, affecting approximately 31,000 adults in the United States. (uspharmacist.com)
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is the most common motor neuron disease in adults. (uspharmacist.com)
Amyotrophic lateral sclerosis (ALS) is the most common degenerative disease of the motor neuron system. (medscape.com)
This paper reports that loss of function of the Drosophila gene cabeza (the Drosophila equivalent of the human FUS gene, mutations in which can cause a familial form of the motor neurodegenerative disease amyotrophic lateral sclerosis or ALS) induces muscle developmental defects. (europa.eu)
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study. (cdc.gov)
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: genetic analysis and clinical features. (cdc.gov)
Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors. (cdc.gov)
Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease for which no cure or viable treatment has been identified. (cdc.gov)
Бічний аміотрофічний склероз (БАС) та інші захворювання рухових нейронів (ЗРН) Amyotrophic lateral sclerosis and other motor neuron diseases are characterized by steady, relentless, progressive degeneration of corticospinal tracts, anterior horn cells, bulbar motor nuclei. (msdmanuals.com)

Depending on where they occur, unusually long forms of these repeating sequences can drive neurological or neuromuscular degeneration. (sciencealert.com)
Diseases such as Lupus, Parkinson's Disease, or Multiple Sclerosis, condemn people to a life of progressive degeneration, loss of neuromuscular control, and eventually death. (wckgradio.com)
Animal studies also suggest that hyperactivation of Src, alteration of autophagy and a mitochondrial deficit underlie the neuromuscular degeneration in SBMA and provide alternative therapeutic targets. (kennedysdisease.org)

Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND). (bvsalud.org)
Despite evidence of neuromuscular junction (NMJ) denervation and 'dying-back' pathology in models of SOD1-dependent ALS, evidence in other genetic forms of ALS is limited by a lack of suitable animal models. (bvsalud.org)
The peripheral nervous system, specifically the neuromuscular junction (NMJ), is known to be affected in ALS patients and shows marked dysfunction across mouse models. (bvsalud.org)
Neurodegeneration and neurodegenerative diseases (including the shared mechanisms of nerve cell death that contribute to many diseases), Vascular Cognitive Impairment and Dementia (VCID), NINDS tissue/cell resources, basic invertebrate neuromuscular junction (NMJ). (nih.gov)
1-3 While the pathogenesis of ALS is not completely understood, it is thought to involve neuronal damage triggered by protein misfolding, oxidative stress, mitochondrial dysfunction, RNA-processing impairment, neurofilament aggregation, loss of axonal transport, disruption of the neuromuscular junction, and axon demyelination. (uspharmacist.com)
Using this system, we discovered an unexpected role for synaptic periactive zone (PAZ) membrane remodeling machinery in EV cargo sorting, stability and release from axon terminals at the Drosophila larval neuromuscular junction. (grantome.com)
Besides nerve localization in the peripheral nervous system, it occurs in diseases of the presynaptic neuromuscular junction such as botulism and myasthenic syndrome. (medscape.com)
Lower motor neurons transmit impulses to the neuromuscular junction to initiate muscle contraction. (msdmanuals.com)

We correctly diagnosed all patients with conditions that were already known, including Huntington's disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease, and more," says genomicist Ira Deveson, also from the Garvan Institute. (sciencealert.com)

Treating neurodegenerative and other neurologic diseases is often challenging. (mdpi.com)

More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). (rarediseasesnetwork.org)
Kennedy's disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. (kennedysdisease.org)
Although early-onset disease is most common, milder phenotype variants can be diagnosed in adulthood. (medscape.com)

SND has a complex aetiology, with both pre-existing disease and heritable genetic variation. (silverchair.com)

In addition, our team has significant expertise in neuromuscular, rare genetic diseases, neurodevelopmental and psychiatric disorder studies. (innoserlaboratories.com)

Supports research to cure two similar upper motor neurological diseases: hereditary spastic paraplegia and primary lateral sclerosis. (rarediseasesnetwork.org)
We performed genetic analysis using a custom-designed gene panel for leukodystrophies in 112 hereditary spastic paraplegia-like patients. (dovepress.com)
Several reports have shown that various late-onset leukodystrophies, such as X-linked adrenoleukodystrophy (ALD) and Krabbe disease (KD), may present as spastic paraplegia (SP) without leukodystrophy on neuroimaging and be easily misdiagnosed as hereditary spastic paraplegia (HSP) on clinical grounds. (dovepress.com)

Genetic mechanisms of susceptibility to congenital and infectious lung diseases, focusing on developmental antecedents and the influence of environmental factors. (rochester.edu)

The complications such as epilepsy, cataract, hepatic failure, chronic renal disease may develop during the clinical follow-up of the patients with inherited metabolic diseases. (hacettepe.edu.tr)

Spinal muscular atrophy (SMA) is one of the rare genetic diseases with an autosomal recessive inheritance. (hacettepe.edu.tr)
VPS13A disease is inherited in an autosomal recessive manner. (nih.gov)
Rare autosomal recessive disease characterized by multiple organ dysfunction. (uchicago.edu)

Patients with ALS and their caregivers will learn more about how ALS disease progression is measured and why it matters, and clinicians and researchers will be provided with specific details about the ROADS to allow its use in clinical trials and at the bedside. (alsa.org)
Local (national) genomic infrastructure is the only way how we can unite genomic experts, clinicians, scientist, patients and industry to study, identify and understand causes of individual and population specific diseases. (muni.cz)
Our platform combines multiple attractive features that allow us to create novel therapies for patients with rare genetic neuromuscular and neurodegenerative diseases. (locanabio.com)
SAN DIEGO, April 20, 2023 - Locanabio, Inc., a genetic medicines company developing RNA-targeted therapeutics for patients with rare genetic neuromuscular and neurodegenerative diseases, today announced the first presentation of data from its next generation engineered small nuclear RNA, or snRNA, platform, which is designed to efficiently deliver targeted snRNA payloads via an adeno-associated virus (AAV) for long-term therapeutic expression. (locanabio.com)
Exon-skipping therapies have the potential to offer clinical benefit for the approximately 80% of DMD patients whose disease is caused by dystrophin mutations that are amenable to exon skipping. (locanabio.com)
This review compares the temporal disease progression with severity of disease at the NMJ in mouse models with the most commonly mutated genes in ALS patients (SOD1, C9ORF72, TARDBP and FUS). (bvsalud.org)
Among 37 patients who were tested using this method, including John, all were correctly matched to their neurogenetic disease. (sciencealert.com)
The majority of ALS patients present with limb-onset disease (65-75%), 10 spreading along the neuraxis to affect contiguous motor neurons. (acnr.co.uk)
Bulbar-onset disease may be evident in 20-25% of patients, characterised by progressive dysarthria, dysphagia, hoarseness, tongue wasting, weakness and fasciculations as well as emotional lability. (acnr.co.uk)
In this issue, we call for the submission of research articles using disease models, including human cells or animal models, as well as research on human material of affected patients. (mdpi.com)
We identified pathogenic mutations in 13 out of 112 patients, including five patients with adrenomyeloneuropathy, three with Krabbe disease, three with Alexander disease, and two with cerebrotendinous xanthomatosis. (dovepress.com)
This will allow researchers to learn more about the disease in patients as they progress through the disease. (azpbs.org)
Lorson, a principal investigator at Bond LSC, co-founded Shift Pharmaceuticals to focus on treatment for patients with spinal muscular atrophy (SMA), an inherited motor neuron disease. (missouri.edu)
Currently, her research is on gene therapy treatments for patients with Charcot-Marie-Tooth disease (CMT). (missouri.edu)
Genetic Testing Valuable in the Clinical Management of Epilepsy Positive findings from genetic testing for patients with epilepsy helps guide clinical man-agement and improves patient outcomes, new research suggests. (medscape.com)
To identify cases not included in these databases and to better understand risk-factors associated with ALS and disease progression, the Registry also includes data that are collected from patients who voluntarily enroll and complete online surveys. (cdc.gov)
Spinal muscular atrophy (SMA) is a neurodegenerative disease that confers a substantial and multifaceted burden on affected patients. (medscape.com)
A total of 20 elderly patients without neurological disease consisted the control group (CG). (bvsalud.org)
Elderly patients with AD and PD have poor oral health, as well as those without neurodegenerative diseases. (bvsalud.org)

This results in extremely costly late-stage development failures and a lack of innovative treatments that halt or reverse disease progression. (innoserlaboratories.com)
Our goal is to understand how and when the onset of the disease occurs so that we can develop new and improved treatments to both stop the progression of the disease but ultimately halt the onset of the disease. (azpbs.org)
Evaluation of muscle and fat using MRI, in addition to biochemical indices such as serum creatinine level, are promising biomarkers to track the disease progression. (kennedysdisease.org)
Role of cancer stem cell interactions with their microenvironment in disease progression. (rochester.edu)
For his award-winning work, Dr. Chio established the Piedmont registry to document and track many aspects of ALS, including genetic and environmental risks, progression, and survival rates. (azbio.org)

These diseases are all caused by microsatellite mutations, where a microsatellite either has three bases, four bases, five bases, or six bases, and these mutations result in excess numbers of copy of these particular units. (hstalks.com)
Genetic diseases are caused by mutations in the genome, which can result in mutant RNA transcripts. (locanabio.com)
This disease is caused by mutations in components of the mtDNA replication machinery, like the DNA polymerase γ (POLγ) and the replicative helicase TWINKLE. (openaire.eu)
Then I will address the role of DNA2 in mitochondria metabolism and in G-quadruplexes mtDNA metabolism and I will characterize the consequences of disease-associated mutations in DNA2 gene. (openaire.eu)
We can enroll individuals that harbor these genetic mutations but don't yet have ALS and follow them over time," Dr. Bowser said. (azpbs.org)
The disease is caused by mutations in the ALMS1 gene. (uchicago.edu)

The disease is rapidly progressive, ultimately fatal and neurodegenerative with about 32,000 cases in the U.S. With an estimated lifetime risk of 1 in 400 people, an average of 5,000 new U.S. cases are diagnosed each year. (azpbs.org)

Our goals are to (1) Decipher the molecular causes of these diseases, (2) Establish relevant cellular (iPS, neurons, muscle cells, etc.) and animal (mouse) models of these diseases and (3) Identify drugs able to correct pathogenicity in these cell and animal models. (igbmc.fr)
Taking a single DNA sample from an individual's blood, researchers can pass the nucleic acids through a protein nanopore , using changes in electrical current arising from the molecular interactions to decode in real time the sequences from 40 genes known to be connected to 25 tandem repeat diseases. (sciencealert.com)
The diagnosis of VPS13A disease is established in a proband with suggestive findings and biallelic pathogenic variants in VPS13A identified by molecular genetic testing. (nih.gov)
The molecular basis of human diseases, including but not limited to the most common single-gene cause of intellectual disability and autism, Fragile X Syndrome, and the development of therapeutics. (rochester.edu)

A genetic aetiology has been identified in up to 20% of apparently "sporadic" and 60% of familial ALS cases, in which two or more family members are clinically affected, with at least 16 genes and genetic loci implicated in ALS pathogenesis. (acnr.co.uk)

Eisai Co., Ltd. (Headquarters: Tokyo, CEO: Haruo Naito, "Eisai") and Biogen Japan Ltd. (Headquarters: Tokyo, President and Representative Director: Shinichi Torii, "Biogen Japan") announced that the companies have commenced co-promotion of Biogen Japan's multiple sclerosis treatments TECFIDERA® (dimethyl fumarate), TYSABRI® (natalizumab, genetic recombinant) and AVONEX® (interferon beta 1a, genetic recombinant) in Japan as of today. (eisai.com)
An autoimmune disease of the central nervous system, multiple sclerosis is a serious, chronic, progressive disease accompanied by inflammation. (eisai.com)
AVONEX (interferon beta 1a, genetic recombinant) was approved in Japan for relapse prevention of multiple sclerosis in July 2006, and was launched in November of the same year. (eisai.com)
The combined approach of using national administrative databases and a self-enrollment web portal to collect data is novel and potentially could be used for other non-notifiable diseases such as Parkinson's disease or multiple sclerosis. (cdc.gov)

My scientific pursuits and vast postgraduate studies included a deep dive into neurodegenerative and autoimmune diseases, as well as diseases that seem to have genetic origins. (wckgradio.com)

InnoSer's neurology team continues to expand upon our offerings that allow industry innovators to better understand the complexity of neurological disease and the effects of their compounds. (innoserlaboratories.com)

Our platform is modular and versatile with several different RNA-targeting payloads for modifying disease-causing RNA using multiple mechanisms. (locanabio.com)
Our programmable snRNA platform can modify disease-causing RNA via a number of mechanisms, providing an array of approaches to treat various genetic diseases. (locanabio.com)
Her research focuses on defining the mechanisms underlying amyloid heart disease. (stanford.edu)
This model therefore provides an ideal platform to investigate mechanisms of dying-back pathology, as well as NMJ-targeting disease-modifying therapies in ALS. (bvsalud.org)
Novel approaches to dissect disease mechanisms and the application of novel therapeutic concepts are urgently needed. (mdpi.com)
I want to talk to someone about my research proposal (basic research, neural mechanisms, or disease mechanisms). (nih.gov)

The therapeutic potential of the platform goes well beyond exon skipping for DMD and we are leveraging the efficient delivery and precise multi-targeting ability of vectorized snRNAs to develop novel therapeutics across a broad range of rare genetic diseases. (locanabio.com)

ALS is also known as Lou Gehrig's Disease. (azpbs.org)
The ALS Association is the only national non-profit organization fighting Lou Gehrig's Disease on every front. (azbio.org)

Assessing causal relationship between circulating cytokines and age-related neurodegenerative diseases: a bidirectional two-sample Mendelian randomization analysis. (cdc.gov)

In childhood, a disorder which involves both the heart and lungs problems, called Pediatric Cardiopulmonary disease. (fsm10.org)
This is a neurodegenerative movement disorder, which is linked to an expansion of repeat DNA sequences in the gene RFC1 . (sciencealert.com)
Cystinosis is a genetic disorder due to a gene defect called cystinosin, where a toxic metabolite called cysteine collects in the cells due to a defect in lysosomes. (hrb.ie)

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. (rarediseasesnetwork.org)
The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI) . (rarediseasesnetwork.org)

This is a worldwide consortium of medical and scientific researchers whose goal is to discover effective treatments for muscle diseases. (ualberta.ca)
Scientists have developed a quick genetic test that can diagnose a large range of rare muscle and nerve diseases with near perfect accuracy. (sciencealert.com)
Using a transgenic mouse model in which an ALS-like mutation was introduced in the mouse Fus gene, we could show that ALS pathology starts at the neuromuscular juction (the transition between motor nerves and skeletal muscle cells), long before motor neuron cell bodies in the spinal cord degenerate. (europa.eu)
The serum level of creatinine starts to decrease before the onset of muscle weakness, followed by the emergence of hand tremor, a prodromal sign of the disease. (kennedysdisease.org)

Liddelow examines the role of astrocytes in central nervous system injury and neurodegenerative disease, with the goal of developing new therapies. (stanford.edu)

To compare the general clinical conditions and oral alterations, and also evaluate the prosthesis, in subjects diagnosed with Alzheimer's disease (AD) or Parkinson's disease (PD), attended at two geriatric centers in the city of Fortaleza - Ceará. (bvsalud.org)

Quantifying Tissue-Specific Proteostatic Decline in Caenorhabditis elegans Maria I. Lazaro-Pena 1 , Adam B. Cornwell 1 , Andrew V. Samuelson 1 1 Department of Biomedical Genetics, University of Rochester Medical Center Proteostatic decline is a hallmark of aging, facilitating the onset of neurodegenerative diseases. (jove.com)
Muscular Dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases of difficult diagnosis and treatment. (novapublishers.com)

This inherited nerve disease causes abnormalities in the nerves in feet, hands, legs, and arms. (missouri.edu)

Peripheral vascular diseases are circulation ailment that affect blood vessels inside the heart and brain. (fsm10.org)
Cardiovascular include more about the acute coronary syndromes, Congestive Heart Failure, inflammatory heart diseases, Pediatric angina pectoris, ischaemic heart diseases, rheumatic heart diseases, valvular heart diseases, peripheral artery diseases, pulmonary embolism and vascular rings. (fsm10.org)

As such, it can take several years to reach a conclusive diagnosis, and it is a disease with significant unmet medical needs. (eisai.com)

Alzheimer's disease (AD) is an age-related neurodegenerative disease and the most common form of dementia. (jneurosci.org)
The most common cause of dementia is Alzheimer's Disease (AD) accounting for 60% to 70% of cases, followed by vascular dementia, dementia with Lewy bodies, and frontotemporal dementia 1-2 . (bvsalud.org)

Phagocytosis assay is an excellent, highly reproducible assay to test compound efficacy using pHRODO -labelled amyloid-β (Aβ) fibrils in an in vitro model of Alzheimer's disease using the human microglial cell line (HMC3). (innoserlaboratories.com)
The accumulation of Aβ within the brain is hypothesized to be the causative agent in Alzheimer's disease ( Walsh and Selkoe, 2004 ). (jneurosci.org)

To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. (rarediseasesnetwork.org)

16 Extra-ocular and sphincter muscles are preserved until advanced stages of the disease, 17 and sensory nerves are not typically affected. (acnr.co.uk)

Although genetic susceptibility is an important factor in how an individual responds to exposure to a carcinogen, heritable genetic factors alone account for only a minor portion of cancer rates. (researchgate.net)
7 The frequency of ALS is significantly lower in non-Caucasian populations, 8 suggesting a role for genetic factors in ALS susceptibility. (acnr.co.uk)

Given the conserved nature of synaptic membrane trafficking machinery, our findings and tools will lay the foundation for new insights into endogenous EV traffic in many aspects of nervous system function, including in human neurological disease. (grantome.com)

These CTG and CCTG repeats are transcribed into mutant CUG or CCUG RNA that bind and sequester the MBNL RNA binding proteins, resulting in specific RNA metabolism changes that cause the neuromuscular symptoms of these diseases. (igbmc.fr)
Various types of ALS are distinguished by symptoms and, in some cases, genetic cause. (rarediseasesnetwork.org)

Dr. Herman has helped countless people, restore their optimal health, who have suffered from terrible chronic diseases. (wckgradio.com)
Inflammatory bowel diseases (IBD) are diseases characterized by chronic inflammation of the intestinal mucosa. (hacettepe.edu.tr)
In terms of clinical manifestations, in addition to spastic paraplegia, three adrenomyeloneuropathy probands also had adrenocortical insufficiency, two Alexander disease probands developed urinary retention, one CTX proband developed cataracts and chronic diarrhea and the other presented with chronic diarrhea and mild tendon xanthomatosis. (dovepress.com)
VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. (nih.gov)

and progressive neuromuscular involvement. (nih.gov)
Confirmation of the disease may require a period of observation to document its progressive nature and to exclude alternative diagnoses. (medscape.com)
ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. (azbio.org)

The focus of my talk is going to be on the genetics of these diseases, and I'll talk very little about the functional biology of these conditions. (hstalks.com)
Genetics of transcription factors and their role in aging and disease. (rochester.edu)

Interestingly, G-quadruplex DNA associates with mtDNA deletions formation in human diseases. (openaire.eu)

Specific challenges when treating diseases of the nervous system include complex cellular interactions between neurons and glial cells, postmitotic characteristics of most neuronal cells, and cellular and supracellular compartmentalization. (mdpi.com)

Our research will help us understand how extracellular vesicles are packaged, released and spread in the nervous system, and may identify new strategies to treat a wide variety of neurological diseases. (grantome.com)

Cancer is globally a disease of significant public health concern owing to its prevalence, and association with morbidity and mortality. (researchgate.net)

Anatomy11

Organisms3

Diseases40

Chemicals and Drugs12

Analytical, Diagnostic and Therapeutic Techniques and Equipment14

Psychiatry and Psychology4

Phenomena and Processes9

Technology, Industry, Agriculture1

Geographicals1

Disorders18

Amyotrophic16

Degeneration3

Junction8

Huntington's1

Neurologic Diseases1

Phenotype3

Complex aetiology1

Neurodevelopmental1

Hereditary3

Developmental1

Metabolic diseases1

Autosomal recessive3

Patients19

Progression5

Mutations6

Fatal1

Molecular4

Aetiology1

Multiple sclerosis4

Autoimmune diseases1

Neurology1

Mechanisms6

Therapeutics1

Gehrig's Disease2

Mendelian1

Disorder3

Clinical research2

Muscle4

Therapies1

Parkinson's Disease1

Onset2

Abnormalities1

Peripheral2

Unmet medical1

Dementia2

Alzheimer's Disease2

Rare1

Sensory1

Susceptibility2

Synaptic1

Symptoms2

Chronic4

Progressive3

Genetics2

Human diseases1

Treating1

Neurological diseases1

Cancer1