Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by genetic defects in the SMN1 gene, which encodes the survival motor neuron 1 (SMN1) protein. SMA is characterized by loss of lower motor neurons and progressive muscle wasting. Here is the latest research on this condition.

December 29, 2020
Review

Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
S Lefebvre, C Sarret
January 5, 2021
Review
Open Access

Disturbances in Calcium Homeostasis Promotes Skeletal Muscle Atrophy: Lessons From Ventilator-Induced Diaphragm Wasting

Frontiers in Physiology
Hayden W Hyatt, Scott K Powers
December 31, 2020
Review
Open Access

How to Build and to Protect the Neuromuscular Junction: The Role of the Glial Cell Line-Derived Neurotrophic Factor

International Journal of Molecular Sciences
Serena StangaPascal Kienlen-Campard
January 5, 2021
Open Access

Prevalence of long-term mechanical insufflation-exsufflation in children with neurological conditions: a population-based study

Developmental Medicine and Child Neurology
Brit HovVegard Hovland
January 6, 2021
Open Access

Quality of life in children and adolescents with Spinal Muscular Atrophy

Revista chilena de pediatría
Pilar VegaSalesa Barja
December 29, 2020
Review

Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease)

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
F Audic, C Barnerias
January 12, 2021

Necrotizing sialometaplasia: a case report of a non-ulcerated histopathological presentation

Dermatology Online Journal
Júlia Dos Santos Vianna NériJean Nunes Dos Santos
January 15, 2021
Open Access

Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human

International Journal of Molecular Sciences
Wei-Fang ChangLi-Ying Sung
January 3, 2021
Open Access

COVID-19 in children with neuromuscular disorders

Journal of Neurology
Daniel Natera-de BenitoNeuromuscular Working Group of Spanish Pediatric Neurology Society
January 8, 2021
Review

Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes

Biochimica Et Biophysica Acta. Molecular Basis of Disease
Natalia N SinghRavindra N Singh
December 29, 2020
Review

State of the art for motor function assessment tools in spinal muscular atrophy (SMA)

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
C Vuillerot
January 12, 2021
Review

Spinal Muscular Atrophy: In the Challenge Lies a Solution

Trends in Neurosciences
Brunhilde Wirth
December 29, 2020
Comment / Editorial

Infantile spinal muscular atrophy (SMA)

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
B Chabrol, I Desguerre
December 29, 2020
Review

Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
E Salort-Campana, S Quijano-Roy

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/spinal-muscular-atrophy/e4da3433-d8ae-4661-8959-b7936b04e708