Publications:

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.

European Journal Of Pediatrics

Pane, Marika M; Donati, Maria Alice MA; Cutrona, Costanza C; De Sanctis, Roberto R; Pirinu, Matteo M; Coratti, Giorgia G; Ricci, Martina M; Palermo, Concetta C; Berti, Beatrice B; Leone, Daniela D; Ticci, Chiara C; Sacchini, Michele M; Cerboneschi, Margherita M; Capasso, Anna A; Cicala, Gianpaolo G; Pera, Maria Carmela MC; Bravetti, Chiara C; Abiusi, Emanuela E; Vaisfeld, Alessandro A; Vento, Giovanni G; Tiziano, Francesco Danilo FD; Mercuri, Eugenio E

Publication Date: 2022-07

Variant appearance in text: rs1454173648

PubMed Link: 35522315

Variant Present in the following documents:

• Main text
• 431_2022_Article_4470.pdf

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SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.

Elife

Abiusi, Emanuela E; Infante, Paola P; Cagnoli, Cinzia C; Lospinoso Severini, Ludovica L; Pane, Marika M; Coratti, Giorgia G; Pera, Maria Carmela MC; D'Amico, Adele A; Diano, Federica F; Novelli, Agnese A; Spartano, Serena S; Fiori, Stefania S; Baranello, Giovanni G; Moroni, Isabella I; Mora, Marina M; Pasanisi, Maria Barbara MB; Pocino, Krizia K; Le Pera, Loredana L; D'Amico, Davide D; Travaglini, Lorena L; Ria, Francesco F; Bruno, Claudio C; Locatelli, Denise D; Bertini, Enrico Silvio ES; Morandi, Lucia Ovidia LO; Mercuri, Eugenio E; Di Marcotullio, Lucia L; Tiziano, Francesco Danilo FD

Publication Date: 2021-09-20

Variant appearance in text: rs1454173648

PubMed Link: 34542403

Variant Present in the following documents:

• Main text
• elife-68054.pdf

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25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Tiziano, Francesco Danilo FD; Tizzano, Eduardo F EF

Publication Date: 2020-12

Variant appearance in text: rs1454173648

PubMed Link: 33458589

Variant Present in the following documents:

• Main text
• am-2020-04-336.pdf

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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

European Journal Of Human Genetics : Ejhg

Czibere, Ludwig L; Burggraf, Siegfried S; Fleige, Tobias T; Glück, Birgit B; Keitel, Lisa Marie LM; Landt, Olfert O; Durner, Jürgen J; Röschinger, Wulf W; Hohenfellner, Katharina K; Wirth, Brunhilde B; Müller-Felber, Wolfgang W; Vill, Katharina K; Becker, Marc M

Publication Date: 2020-01

Variant appearance in text: SMN1: 835-44G>A; rs1454173648

PubMed Link: 31363188

Variant Present in the following documents:

• Main text

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