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    National Library of Medicine — Help Me Understand Genetics presents basic information about genetics in clear language and provides links to online resources. Mutations and Health Gene mutations, chromosomal changes, and conditions that run in families Inheriting Genetic ...More…

  • Cerebral cavernous malformation

    National Library of Medicine — Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls that are prone to leak. They also lack other ...More…

  • Toxic Interactions from Neighboring Cells May Be ...

    NINDS — A new study suggests that interactions between different cells are critical for the development of Huntington's disease (HD) and perhaps other neurodegenerative diseases. This study provides the first genetic evidence that cell-cell interactions ...More…

  • Colpocephaly

    NINDS — Colpocephaly Information Page Publications Organizations News Research literature Clinical Trials Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of ...More…

  • Mitochondrial Myopathies

    NINDS — Mitochondrial Myopathies Information Page Publications Organizations News Research literature Clinical Trials Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria-small, energy-producing structures ...More…

  • Menkes Disease

    NINDS — Menkes Disease (Kinky Hair Syndrome) information page compiled by NINDS. Menkes Disease Information Page Publications Organizations News Research literature Clinical Trials Menkes disease is caused by a defective gene that regulates the ...More…

  • Lesch-Nyhan Syndrome

    NINDS — Lesch-Nyhan Syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Lesch-Nyhan Syndrome Information Page Publications Organizations News Research literature Clinical Trials Lesch-Nyhan syndrome ...More…

  • Leigh's Disease

    NINDS — Leigh's Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Leigh's Disease Information Page Publications Organizations News Research literature Clinical Trials Leigh's disease is a rare . ...More…

  • Gerstmann-Straussler-Scheinker Disease

    NINDS — Gerstmann-Straussler-Scheinker disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Gerstmann-Straussler-Scheinker Disease Information Page Publications Organizations News Research literature ...More…

  • Fabry Disease

    NINDS — Fabry's Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Fabry Disease Information Page Publications Organizations News Research literature Clinical Trials Fabry disease is caused by the ...More…

  • Cerebellar Degeneration

    NINDS — Cerebellar degeneration information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Cerebellar Degeneration Information Page Publications Organizations News Research literature Clinical Trials Cerebellar ...More…


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