All individuals with variants in gene UBQLN2

14 entries on 1 page. Showing entries 1 - 14.
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00078532 - PubMed: Kim 2014, Journal: Kim 2014 - F - Korea Korean >67y 0 - - ALS progressive limb weakness (HP:0003690) 1 1 Jamie Zeegers
00078533 - PubMed: Kim 2014, Journal: Kim 2014 - M - Korea Korean >35y 0 - - ALS progressive lower leg weakness (HP:0007340), spasticity (HP:0001257) 1 1 Jamie Zeegers
00094979 - PubMed: Kim 2014, Journal: Kim 2014 - F;M - Korea - - 0 - - Healthy/Control - 1 5 Johan den Dunnen
00172692 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172693 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00271355 - - - M - - - - 0 - - ? Abnormality of movement (HP:0100022); Abnormal motor neuron morphology (HP:0002450) 1 1 Andreas Laner
00407013 C9ORF72#13 PubMed: Ozoguz 2015 - M - Turkey - - 0 - - ALS site onset limb 1 1 Johan den Dunnen
00407033 UBQLN2#1 PubMed: Jiang 2022 3-generation family, affected mother/son M - China - - 0 - - ALS site onset limb 1 2 Johan den Dunnen
00407034 UBQLN2#2 PubMed: Jiang 2022 4-generation family, 2 affected brothers, 4 unaffected heterozygous carriers (3F, M) M yes China - - 0 - - ALS incomplete penetrance; site onset limb 1 2 Johan den Dunnen
00407035 UBQLN2#3 PubMed: Jiang 2022 5-generation family, 6 affected (6F), 5 unaffected heterozygous carriers (4F, M) M - China - - 0 - - ALS - 1 6 Johan den Dunnen
00407036 UBQLN2#4 PubMed: Jiang 2022 4-generation family, 2 affected brothers, 2 unaffected heterozygous carriers (F, M) F - China - - 0 - - ALS - 1 2 Johan den Dunnen
00407037 UBQLN2#5 PubMed: Jiang 2022 2-generation family, 1 affected M - China - - 0 - - ALS - 1 1 Johan den Dunnen
00407058 UBQLN2-S1 PubMed: Jiang 2022 - M - China - - 0 - - ALS drop foot; site onset limb 1 1 Johan den Dunnen
00407059 UBQLN2-S2 PubMed: Jiang 2022 - F - China - - 0 - - ALS Madras-type motor neuron disease; site onset limb 1 1 Johan den Dunnen
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