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15 results on '"Laurà, Matilde"'

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1. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions

2. Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.

3. Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

7. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions

9. Clinical and genetic characteristics of late-onset Huntington's disease

10. Cognitive decline in Huntington's disease expansion gene carriers

11. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

12. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

13. Clinical and genetic characterization of leukoencephalopathies in adults

14. Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

15. Identification of genetic variants associated with Huntington's disease progression

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