क्यूआर कोड

Parkinsonism-dystonia syndrome due to a PARK7 gene mutation

We describe a young woman with a novel homozygous PARK7 mutation causing an early-onset and progressive parkinsonism-dystonia syndrome with poor dopaminergic response. Clinical heterogeneity among homozygous mutation carriers emphasises that molecular characterisation of novel variants and detailed...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Alexander Calvano, Dilara Bingoel, Laura Beccaria, Fabian Bodlee, Lars Timmermann, Natalia Kurka, David J. Pedrosa
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2026-01-01
श्रृंखला:Clinical Parkinsonism & Related Disorders
विषय:
Parkinson’s disease
PARK7
DJ1
Genetics
ऑनलाइन पहुंच:http://www.sciencedirect.com/science/article/pii/S2590112525001185
टैग: टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन