Doctors successfully screen embryos for gene mutation linked to early onset Alzheimer's

BMJ ◽  
2002 ◽  
Vol 324 (7337) ◽  
pp. 564a-564 ◽  
Author(s):  
D. Josefson
Keyword(s):  
Gene Mutation ◽  
Early Onset

scholarly journals Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Intragenic Deletion

Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation

Medicine ◽  
2020 ◽  
Vol 99 (22) ◽  
pp. e20507
Author(s):  
Chen Chen ◽  
Yunpeng Hao ◽  
Jianmin Liang ◽  
Xuncan Liu
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Congenital Microcephaly

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

2007 ◽  
Vol 14 (5) ◽  
pp. 575-577 ◽  
Author(s):  
C. Neusch ◽  
J. Senderek ◽  
T. Eggermann ◽  
E. Elolff ◽  
M. Bähr ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Early Onset ◽  
Mitofusin 2 ◽  
Axonal Polyneuropathy
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