Results 1 -
10
of
47
for
"Myoclonus," "familial," 2
- ... 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. ...
- ... 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 ...
- ... 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 ...
- ... lysosomal association of cystatin B proteins representing progressive ... a subset of familial Unverricht-Lundborg disease. Med Hypotheses. 2005;64(5): ...
- ... including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely ... PubMed TBC1 DOMAIN FAMILY, ...
- ... 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. ...
- ... lysosomal association of cystatin B proteins representing progressive ... a subset of familial Unverricht-Lundborg disease. Med Hypotheses. 2005;64(5): ...
- ... 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 ...
- Mitochondrial DNA Depletion Syndrome (Alpers' Disease) (National Institute of Neurological Disorders and Stroke)Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics
- Mitochondrial Disorders (National Institute of Neurological Disorders and Stroke)Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders