MN
Marcella Neri
University of Ferrara
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Muscle Physiology and Disorders · Neurogenetic and Muscular Disorders Research
0000-0001-6133-9831
Employment
Education
Education history is unavailable.
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Projects & funding information is unavailable.
Publications (52)
- MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping Save
- Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Save
- Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Save
- Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Save
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Save
- The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy. Save
- Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. Save
- Corrigendum to: "Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression". [Biochim. Biophys. Acta Gene Regul. Mech. 2017 Nov;1860(11):1138-1147.]. Save
- Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes. Save
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. Save
- Report of a novel ATP7A mutation causing distal motor neuropathy. Save
- Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains Save
- Homozygous recessive versican missense variation is associated with early teeth loss in a pakistani family Save
- Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome Save
- New CACNA1A deletions are associated to migraine phenotypes Save
- A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene Save
- A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions Save
- Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains Save
- De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report Save
- Erratum to: De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report (The Journal of Headache and Pain, (2017), 18, 1, (63), 10.1186/s10194-017-0770-x) Save