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Robotic balance assessment in community-dwelling older people with different grades of impairment of physical performance.
Cella A, De Luca A, Squeri V, Parodi S, Puntoni M, Vallone F, Giorgeschi A, Garofalo V, Zigoura E, Senesi B, De Michieli L, Saglia J, Sanfilippo C, Pilotto A. Cella A, et al. Among authors: sanfilippo c. Aging Clin Exp Res. 2020 Mar;32(3):491-503. doi: 10.1007/s40520-019-01395-0. Epub 2019 Nov 5. Aging Clin Exp Res. 2020. PMID: 31691151
Development and validation of a robotic multifactorial fall-risk predictive model: A one-year prospective study in community-dwelling older adults.
Cella A, De Luca A, Squeri V, Parodi S, Vallone F, Giorgeschi A, Senesi B, Zigoura E, Quispe Guerrero KL, Siri G, De Michieli L, Saglia J, Sanfilippo C, Pilotto A. Cella A, et al. Among authors: sanfilippo c. PLoS One. 2020 Jun 25;15(6):e0234904. doi: 10.1371/journal.pone.0234904. eCollection 2020. PLoS One. 2020. PMID: 32584912 Free PMC article.
Dynamic Stability and Trunk Control Improvements Following Robotic Balance and Core Stability Training in Chronic Stroke Survivors: A Pilot Study.
De Luca A, Squeri V, Barone LM, Vernetti Mansin H, Ricci S, Pisu I, Cassiano C, Capra C, Lentino C, De Michieli L, Sanfilippo CA, Saglia JA, Checchia GA. De Luca A, et al. Among authors: sanfilippo ca. Front Neurol. 2020 Jun 17;11:494. doi: 10.3389/fneur.2020.00494. eCollection 2020. Front Neurol. 2020. PMID: 32625162 Free PMC article.
Extracellular vesicles from microglial cells activated by abnormal heparan sulfate oligosaccharides from Sanfilippo patients impair neuronal dendritic arborization.
Dias C, Ballout N, Morla G, Alileche K, Santiago C, Guerrera IC, Chaubet A, Ausseil J, Trudel S. Dias C, et al. Mol Med. 2024 Nov 4;30(1):197. doi: 10.1186/s10020-024-00953-1. Mol Med. 2024. PMID: 39497064 Free PMC article.
BACKGROUND: In mucopolysaccharidosis type III (MPS III, also known as Sanfilippo syndrome), a pediatric neurodegenerative disorder, accumulation of abnormal glycosaminoglycans (GAGs) induces severe neuroinflammation by triggering the microglial pro-inflammato …
BACKGROUND: In mucopolysaccharidosis type III (MPS III, also known as Sanfilippo syndrome), a pediatric neurodegenerati …
Tandem mass spectrometry-based assay for heparan-N-sulphatase in paediatric CSF: A potential pharmacodynamic biomarker for mucopolysaccharidosis type IIIA therapy.
Speziale R, Hocquemiller M, Mei X, Fabbrini D, Malancona S, Aiach K, Laufer R, Orsatti L. Speziale R, et al. Clin Chim Acta. 2024 Oct 3;565:119987. doi: 10.1016/j.cca.2024.119987. Online ahead of print. Clin Chim Acta. 2024. PMID: 39368684 Free article.
In mucopolysaccharidosis type IIIA, heparan sulfate accumulates in the lysosomes, predominantly affecting the central nervous system. It is the most common and most severe form of mucopolysaccharidosis type III, with onset typically before the age of ten year …
In mucopolysaccharidosis type IIIA, heparan sulfate accumulates in the lysosomes, predominantly affecting the central nervous system. …
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.
Corazolla EM, Eskes ECB, Veldwijk J, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B. Corazolla EM, et al. Orphanet J Rare Dis. 2024 Oct 3;19(1):367. doi: 10.1186/s13023-024-03371-y. Orphanet J Rare Dis. 2024. PMID: 39363355 Free PMC article.
The survey was distributed among people receiving outpatient care for type 1 Gaucher disease (good prognosis with current treatment options), Fabry disease (varying prognosis with current treatment options, XY-genotype on average more severely affected than XX), and parents repre …
The survey was distributed among people receiving outpatient care for type 1 Gaucher disease (good prognosis with current treatment options) …
Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients.
Wiśniewska K, Rintz E, Żabińska M, Gaffke L, Podlacha M, Cyske Z, Węgrzyn G, Pierzynowska K. Wiśniewska K, et al. Biochem Biophys Res Commun. 2024 Nov 12;733:150718. doi: 10.1016/j.bbrc.2024.150718. Epub 2024 Sep 19. Biochem Biophys Res Commun. 2024. PMID: 39305572 Free article.
Sanfilippo disease is a lysosomal storage disorder from the group of mucopolysaccharidoses (MPS), characterized by storage of glycosaminoglycans (GAGs); thus, it is also called MPS type III. The syndrome is divided into 4 subtypes (MPS III A, B, C and D). Despite th …
Sanfilippo disease is a lysosomal storage disorder from the group of mucopolysaccharidoses (MPS), characterized by storage of glycosaminogly …
1,259 results