Suchergebnisse - "Mercuri, Eugenio"

PubPharm (32)

1

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

enthalten in: International journal of molecular sciences | 2022

von Bosco, L. | Leone, D. | Costa Comellas, L. | +6

2

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition : Three Independent Cases of Double Diagnosis

enthalten in: Genes | 2021

von Tabolacci, E. | Pomponi, M. | Remondini, L. | +11

3

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2021

von De Rose, D. | Gallini, F. | Battaglia, D. | +10

4

Expanding the spectrum of congenital myopathies : prenatal onset with extreme hyperextension of the neck

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2021

von Tiberi, E. | Costa, S. | De Rose, D. | +6

5

De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings : A Case Report with New Genetic Insights

enthalten in: Brain sciences | 2020

von Brogna, C. | Milano, V. | Brogna, B. | +6

6

Nusinersen in type 0 spinal muscular atrophy : should we treat?

enthalten in: Annals of clinical and translational neurology | 2020

von Tiberi, E. | Costa, S. | Pane, M. | +7

CommentIn: Ann Clin Transl Neurol. 2021 Oct;8(10):2094-2095. - PMID 34546649

7

Spinal cord demyelination in children : A diagnostic challenge in neuropaediatrics for a good outcome

enthalten in: Brain & development | 2020

von Battini, R. | Olivieri, G. | Milone, R. | +7

8

Pediatric Motor Inflammatory Neuropathy : The Role of Antiphospholipid Antibodies

enthalten in: Brain sciences | 2020

von Brogna, C. | Luigetti, M. | Norcia, G. | +7

9

Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy

enthalten in: Muscle & nerve | 2019

von Salmin, F. | Albamonte, E. | Morettini, V. | +3

10

Clinical features and genetic analysis of two siblings with startle disease in an Italian family : a case report

enthalten in: BMC medical genetics | 2019

von Sprovieri, T. | Ungaro, C. | Sivo, S. | +9