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  2. Genetics of amyotrophic lateral sclerosis - Wikipedia

    en.wikipedia.org/wiki/Genetics_of_amyotrophic...

    They have contributed significantly to our understanding of ALS genetics; for example, a 2010 GWAS studying ALS in Finland led to discovery of the role of mutations at the C9orf72 locus in ALS. However, a gene identified by a single GWAS may not actually be associated with ALS, especially if the cohort size is small. In outbred populations ...

  3. ALS - Wikipedia

    en.wikipedia.org/wiki/ALS

    ALS and FTD are now considered to be part of a common disease spectrum (ALS–FTD) because of genetic, clinical, and pathological similarities. [60] Genetically, repeat expansions in the C9orf72 gene account for about 40% of genetic ALS and 25% of genetic FTD. [61]

  4. Amyotrophic lateral sclerosis research - Wikipedia

    en.wikipedia.org/wiki/Amyotrophic_lateral...

    Also, some studied have introduced the transgenic strain of C. elegans, which has a mutation in a gene related to ALS for example, and crossed them with the transgenic nlp-29 GFP reporter strain, resulting in fluorescent markers to the cells that are expressing these mutated genes, which can be used to monitor the disease development and ...

  5. ALS Therapy Development Institute - Wikipedia

    en.wikipedia.org/wiki/ALS_Therapy_Development...

    The Foundation's first therapy concept was to replace EAAT2 protein using gene therapy. [2] [4] In 2004, the Foundation moved to a 16,000-square-foot (1,500 m 2) location in Cambridge, Massachusetts with an in-house lab. ALS TDF constructed a biosafety level 2 lab in 2005, allowing for the expansion of "gene therapy and cell-based treatment ...

  6. Project MinE - Wikipedia

    en.wikipedia.org/wiki/Project_MinE

    The long-term benefit of the approach taken for project MinE is the priceless catalogue of many non-ALS whole genomes that can be used to investigate other human diseases, including Diabetes Mellitus, [2] some types of cancer, and other neurological disorders. [3] [4] Project MinE is worldwide the largest genetic study for Amyotrophic Lateral ...

  7. ALS2 - Wikipedia

    en.wikipedia.org/wiki/ALS2

    74018 Ensembl ENSG00000003393 ENSMUSG00000026024 UniProt Q96Q42 Q920R0 RefSeq (mRNA) NM_001135745 NM_020919 NM_001159948 NM_028717 NM_146109 RefSeq (protein) NP_001129217 NP_065970 NP_001153420 NP_082993 NP_666221 Location (UCSC) Chr 2: 201.7 – 201.78 Mb Chr 1: 59.2 – 59.28 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alsin is a protein that in humans is encoded by the ALS2 ...

  8. Category:Amyotrophic lateral sclerosis - Wikipedia

    en.wikipedia.org/wiki/Category:Amyotrophic...

    Articles relating to amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease. It is a specific disease which causes the death of neurons controlling voluntary muscles. ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscles decreasing in size.

  9. C9orf72 - Wikipedia

    en.wikipedia.org/wiki/C9orf72

    The identification of this gene will therefore help in the future diagnosis of familial ALS. [21] Slow diagnosis is also common for FTD, which can often take up to a year with many patients initially misdiagnosed with another condition. Testing for a specific gene that is known to cause the diseases would help with faster diagnoses.

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