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Results 1 - 10 of 47 for "Myoclonus," "familial," 2
  1. ... JH, Tijssen MA. Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. Eur J Paediatr Neurol. 2009 Mar;13(2):178-80. doi: 10.1016/j.ejpn.2008. ...
  2. ... of speech, personality changes, and involuntary muscle twitches (myoclonus).Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized ...
  3. ... into adulthood. The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals. PRICKLE1-related progressive myoclonus epilepsy with ...
  4. ... lysosomal association of cystatin B proteins representing progressive ... a subset of familial Unverricht-Lundborg disease. Med Hypotheses. 2005;64(5): ...
  5. ... including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely ... PubMed TBC1 DOMAIN FAMILY, ...
  6. ... imprinted. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: ... course, and genetic features in 11 families. Mov Disord. 2008 Jan;23(1):28-34. ...
  7. ... lysosomal association of cystatin B proteins representing progressive ... a subset of familial Unverricht-Lundborg disease. Med Hypotheses. 2005;64(5): ...
  8. ... myoclonic 4, with or without renal failure EPM4 Familial myoclonus with renal failure Myoclonus-nephropathy syndrome Progressive ... JL, Azevedo JE, Miranda MC. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic ...
  9. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics
  10. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders
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