Anja Tea Golubić on Muck Rack

Anja Tea Golubić

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Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen

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By Marija Babić, Maria Banović, Vana Vukić, Anja Tea Golubić
| Wiley Online Library
1 INTRODUCTION Proximal spinal muscular atrophy (SMA) is a progressive autosomal recessive neurodegenerative disease with an incidence of 1 in 6–11,000 live births.1 It is caused by homozygous deletion or mutation of the SMN1 gene (survival motor neuron 1, telomeric) on chromosome 5q11.2–q13.3. The leading sign is progressive muscle weakness and atrophy.
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