Article
Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.
European journal of neurology - 1 Jun 2023
Mutez E, Swiderski M, Devos D, Moreau C, Baille G, Degardin A, Ryckewaert G, Carriere N, Kreisler A, Simonin C, Rouaix N, Tir M, Krystkowiak P, Ramdane N, Génin M, Sablonnière B, Defebvre L, Huin V
Abstract excerpt
BACKGROUND AND PURPOSE: The monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation-dependent probe amplification (MLPA) as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with...
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