Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India

2021 ◽  
Author(s):  
Josef Finsterer
Keyword(s):  
Mutation Carriers ◽  
Polg1 Mutation

scholarly journals “Twitching” and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?

2019 ◽  
Vol 7 (1) ◽  
pp. 91-93 ◽  
Author(s):  
Martje G. Pauly ◽  
Sinem Tunc ◽  
Tobias Bäumer ◽  
Gabriele Gillessen‐Kaesbach ◽  
Alexander Münchau
Keyword(s):  
Mutation Carriers ◽  
Red Flag ◽  
Polg1 Mutation

Pathoanatomic correlates of psychiatric symptoms in PINK1 mutation carriers

2007 ◽  
Vol 34 (S 2) ◽  
Author(s):  
K Reetz ◽  
R Lencer ◽  
S Steinlechner ◽  
C Gaser ◽  
J Hagenah ◽  
...  
Keyword(s):  
Psychiatric Symptoms ◽  
Mutation Carriers

Cardio metabolic assessment of lamin A/C mutation carriers according to R482 or Non-R482 mutation

2017 ◽  
Author(s):  
Maxime Kwapich ◽  
Kenza Benomar ◽  
Stephanie Espiart ◽  
Eric Van Belle ◽  
Pascal Pigny ◽  
...  
Keyword(s):  
Lamin A ◽  
Mutation Carriers

Prevalence of paraganglioma at first screen in SDH mutation carriers identified through family screening

2017 ◽  
Author(s):  
Isra Ahmed Mohamed ◽  
Anand Velusamy ◽  
Louise Izatt ◽  
Adrian Li ◽  
Mamta Joshi ◽  
...  
Keyword(s):  
Family Screening ◽  
Mutation Carriers ◽  
Sdh Mutation
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