Results 201 to 210 of about 1,822 (274)

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen. [PDF]

Eur J Neurol
Coratti G, Bovis F, Pane M, Pasternak A, Albamonte E, Mizzoni I, Glanzman AM, Morando S, Montes J, Cavallina I, Dunaway Young S, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Pera MC, Messina S, D'Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel RS, Mercuri E, iSMAC/international SMA consortium.   +34 more
europepmc   +1 more source

UEG Week 2025 Oral Presentations

United European Gastroenterology Journal, Volume 13, Issue S8, Page S7-S188, October 2025.
wiley   +1 more source

Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy. [PDF]

J Neurol
Dobelmann V, Roos A, Hentschel A, Della Marina A, Leo M, Schmitt LI, Maggi L, Schara-Schmidt U, Hagenacker T, Ruck T, Kölbel H.   +10 more
europepmc   +1 more source

UEG Week 2025 Moderated Posters

United European Gastroenterology Journal, Volume 13, Issue S8, Page S189-S802, October 2025.
wiley   +1 more source

Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies. [PDF]

BMJ Paediatr Open
Sakpichaisakul K, Katanyuwong K, Intusoma U, Paprad T, Suwanpakdee P, Khongkhatithum C, Sanmaneechai O.   +6 more
europepmc   +1 more source

UEG Week 2025 Poster Presentations

United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley   +1 more source

Pediatric non-Hodgkin lymphoma as a rare cause of spinal cord injury: When lymphoma hides in the canal. [PDF]

Clin Case Rep
Zama D, Candela E, Pagano G, Venturelli F, Melchionda F, Toni F, Zucchelli M, Pession A.   +7 more
europepmc   +1 more source

Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives. [PDF]

Nutrients
Eletti F, Tagi VM, Greco IP, Stucchi E, Fiore G, Bonaventura E, Bruschi F, Tonduti D, Verduci E, Zuccotti G.   +9 more
europepmc   +1 more source

Spinal muscular atrophy in childhood

Seminars in Pediatric Neurology, 1996
Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data.
Anna Fidziańska
openalex   +4 more sources