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Valentina Melzi

University of Milan

14

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133

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Expanding the genotypic and phenotypic spectrum of Beta‐propeller‐associated neurodegeneration (BPAN)

2020 European Journal of Neurology
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Synaptotagmin 13 is neuroprotective across motor neuron diseases

2020 Acta Neuropathologica
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RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A (S58.005)

2019 Neurology
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MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors

2018 Scientific Reports
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A de novo C19orf12 heterozygous mutation in a patient with MPAN

2017 Parkinsonism & Related Disorders
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Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

2017 Scientific Reports
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Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease

2017 Parkinsonism & Related Disorders
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LRRK2 and GBA mutation analysis in a cohort of Italian familial and sporadic PD

2016 Parkinsonism & Related Disorders
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Mutational analysis of COQ2 in patients with MSA in Italy

2016 Neurobiology of Aging
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Mutational Analysis of COQ2 in Italian Patients with MSA (P5.249)

2014 Neurology
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