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You searched for: Author/Creator Marelli, Cecilia

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1. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013)

3. Added value of 18F‐florbetaben amyloid PET in the diagnostic workup of most complex patients with dementia in France: A naturalistic study. Issue 3 (26th October 2017)

4. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?. (February 2018)

5. Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression. Issue 5 (11th August 2017)

7. Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency. Issue 3 (2nd November 2020)

8. Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria. (28th September 2021)

9. L21 P42, a 23AA domain of the huntingtin protein: its protective properties and its modes of action. (13th September 2016)

10. Late‐onset behavioral variant of frontotemporal lobar degeneration versus Alzheimer's disease: Interest of cerebrospinal fluid biomarker ratios. Issue 3 (27th June 2015)