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Results 21 - 30 of 1,007 for Brain disorder
  1. Smith-Kingsmore syndrome 
    ... Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  2. DLG4-related synaptopathy 
    ... Tumer Z. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 May;23(5):888-899. ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  3. MT-TK gene 
    ... MERRF (described above), can also cause a progressive brain disorder called Leigh syndrome. Signs and symptoms of this ... EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 ... with MERRF-MELAS overlap. Brain Dev. 1996 May-Jun;18(3):185-91. ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  4. Amyotrophic lateral sclerosis 
    ... called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs ... genetic analysis methodologies entailing new opportunities and challenges. Brain ... biomarkers for an enigmatic disorder. Prog Neurobiol. 2011 Dec;95(4):663-9. ...
    https://medlineplus.gov/.../condition/amyotrophic-lateral-sclerosis - Genetics
  5. DLG4 gene 
    ... Tumer Z. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Citation on PubMed ... Epub 2016 Feb 16. Citation on PubMed
    https://medlineplus.gov/genetics/gene/dlg4 - Genetics
  6. GRN gene 
    ... frontotemporal lobar degeneration. This condition is a progressive brain disorder that can affect behavior, language, and movement. The ... lobar degeneration. However, studies have shown that the disorder is ... in certain brain cells. The TDP-43 protein forms clumps (aggregates) ...
    https://medlineplus.gov/genetics/gene/grn - Genetics
  7. Mitochondrial DNA 
    ... can cause Leigh syndrome, which is a progressive brain disorder that usually appears in infancy or early childhood. ... with high energy requirements (such as the heart, brain, and muscles). ... mitochondrial disorders is thought to be associated with the percentage ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  8. SNCA gene 
    ... the risk of multiple system atrophy, a progressive brain disorder that affects movement and balance and disrupts the ... bodies. These protein clusters are present throughout the brain where they ... form of the disorder, which typically appears before age 50. Other variations ...
    https://medlineplus.gov/genetics/gene/snca - Genetics
  9. Down syndrome 
    ... increased risk of developing Alzheimer's disease, a brain disorder that results in a gradual loss of memory, ... in Down syndrome clinical care: celiac disease, thyroid disorders, and ... Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). J Neurol. 2002 ...
    https://medlineplus.gov/genetics/condition/down-syndrome - Genetics
  10. ATN1 gene 
    ... 35. Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements, mental and emotional problems, ... features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 gene variants that cause ... to accelerate therapeutic trials in a globally rare repeat expansion disorder. J Neurol. 2021 Aug;268(8):3031-3041. ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
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