Condition: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
rs104893941 in
MRNIP;SQSTM1 gene and
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
PMID 11992264 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
PMID 23942205 2014 Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
PMID 22084127 2011 SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
PMID 23417734 2013 Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
PMID 25114083 2015 A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
PMID 24899140 2014 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
PMID 21515589 2011 A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.
PMID 24042580 2013 SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
PMID 21195346 2011 Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
PMID 19589897 2009 The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
PMID 15493999 2004 Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.
PMID 25241215 2015 Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
PMID 18765443 2008 A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.
rs1225746517 in
SQSTM1 gene and
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
PMID 25114083 2015 A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
PMID 24899140 2014 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
PMID 24042580 2013 SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
PMID 22084127 2011 SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.