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Research Output 2018 2019

  • 11 Citations
  • 2 h-Index
  • 3 Review article
  • 1 Article
2019

A new family with transportinopathy: increased clinical heterogeneity

Angelini, C., Marozzo, R., Pinzan, E., Pegoraro, V., Molnar, M. J., Torella, A. & Nigro, V., Jun 1 2019, In : Therapeutic Advances in Neurological Disorders. 12

Research output: Contribution to journalArticle

Open Access
Karyopherins
Nuclear Family
Muscles
Mothers
Magnetic Resonance Imaging

Update on polyglucosan storage diseases

Cenacchi, G., Papa, V., Costa, R., Pegoraro, V., Marozzo, R., Fanin, M. & Angelini, C., Jan 1 2019, In : Virchows Archiv.

Research output: Contribution to journalReview article

Somatotypes
Inborn Genetic Diseases
Muscular Diseases
Glycogen Storage Disease Type VII
Glycogen Storage Disease Type IV
2018
6 Citations (Scopus)

An update on diagnostic options and considerations in limb-girdle dystrophies

Angelini, C., Giaretta, L. & Marozzo, R., Sep 2 2018, In : Expert Review of Neurotherapeutics. 18, 9, p. 693-703 11 p.

Research output: Contribution to journalReview article

Limb-Girdle Muscular Dystrophies
Extremities
Exome
Phenotype
Genetic Techniques
5 Citations (Scopus)

Hearing impairment in MELAS: New prospective in clinical use of microRNA, a systematic review

Di Stadio, A., Pegoraro, V., Giaretta, L., Dipietro, L., Marozzo, R. & Angelini, C., Feb 21 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 35.

Research output: Contribution to journalReview article

MELAS Syndrome
MicroRNAs
Hearing Loss
Temporal Bone
Spiral Ganglion