Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

32 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
Pera MC, Coratti G, Pane M, Masson R, Sansone VA, D'Amico A, Catteruccia M, Agosto C, Varone A, Bruno C, Messina S, Ricci F, Bruno I, Procopio E, Pini A, Siliquini S, Zanin R, Albamonte E, Berardinelli A, Mastella C, Baranello G, Previtali SC, Trabacca A, Bravetti C, Gagliardi D, Filosto M, de Sanctis R, Finkel R, Mercuri E; Italian SMA type I Study Group. Pera MC, et al. EClinicalMedicine. 2024 Nov 30;78:102967. doi: 10.1016/j.eclinm.2024.102967. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39687428 Free PMC article.
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Rossini L, Ricci S, Montin D, Azzari C, Gambineri E, Tellini M, Conti F, Pession A, Saettini F, Naviglio S, Valencic E, Magnolato A, Baselli L, Azzolini S, Consolini R, Leonardi L, D'Alba I, Carraro E, Romano R, Melis D, Stagi S, Cirillo E, Giardino G, Biffi A, Pignata C, Putti MC, Marzollo A. Rossini L, et al. Among authors: magnolato a. J Clin Immunol. 2024 Apr 27;44(5):105. doi: 10.1007/s10875-024-01676-y. J Clin Immunol. 2024. PMID: 38676773
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Pane M, Coratti G, Sansone VA, Messina S, Catteruccia M, Bruno C, Sframeli M, Albamonte E, Pedemonte M, Brolatti N, Mizzoni I, D'Amico A, Bravetti C, Berti B, Palermo C, Leone D, Salmin F, De Sanctis R, Pera MC, Piastra M, Genovese O, Ricci F, Cavallina I, Masson R, Zanin R, Agosto C, Salomon E, Bruno I, Magnolato A, Bertini E, Tiziano FD, Bovis F, Mercuri E; Italian EAP Working Group. Pane M, et al. Among authors: magnolato a. Eur J Neurol. 2023 Jun;30(6):1755-1763. doi: 10.1111/ene.15768. Epub 2023 Apr 3. Eur J Neurol. 2023. PMID: 36880698
Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.
Mughal MZ, Baroncelli GI, de Lucas-Collantes C, Linglart A, Magnolato A, Raimann A, Santos F, Schnabel D, Shaw N, Nilsson O. Mughal MZ, et al. Among authors: magnolato a. Front Endocrinol (Lausanne). 2023 Jan 31;13:1034580. doi: 10.3389/fendo.2022.1034580. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36798486 Free PMC article. Review.
Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib.
Caiffa T, Tessitore A, Magnolato A, Petz M, Bobbo M, Chicco D, D'Agata Mottolese B, Porcari A, Barbi E, Sinagra G, Bruno I. Caiffa T, et al. Among authors: magnolato a. Paediatr Drugs. 2023 Mar;25(2):217-224. doi: 10.1007/s40272-022-00551-w. Epub 2022 Dec 18. Paediatr Drugs. 2023. PMID: 36529809 Free article.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: magnolato a. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
A child without kneecaps.
Baldo F, Magnolato A, Bruno I, Faletra F, Carbone M, Barbi E. Baldo F, et al. Among authors: magnolato a. J Paediatr Child Health. 2022 Mar;58(3):550. doi: 10.1111/jpc.1_15519. J Paediatr Child Health. 2022. PMID: 35244310 No abstract available.
32 results