1. Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system. (31st January 2022) Authors: Vera, Luisa Natalia Pimentel; Schuh, Roselena Silvestri; Fachel, Flavia Nathielly Silveira; Poletto, Edina; Piovesan, Eduarda; Kubaski, Francyne; Couto, Eduarda; Brum, Bruna; Rodrigues, Graziella; Souza, Hallana; Giugliani, Roberto; Matte, Ursula; Baldo, Guilherme; Teixeira, Helder F. Journal: Journal of gene medicine Issue: Volume 24:Number 4(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Can clinical subtypes contribute to genetic studies on major depression?. (December 2017) Authors: Caldieraro, Marco Antonio; Blaya, Carolina; Brusius-Facchin, Ana Carolina; Kubaski, Francyne; Leistner-Segal, Sandra; Fleck, Marcelo P Journal: Australasian psychiatry Issue: Volume 25:Number 6(2017:Dec.) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII†. (12th March 2017) Authors: Kubaski, Francyne; Brusius‐Facchin, Ana Carolina; Mason, Robert W.; Patel, Pravin; Burin, Maira G.; Michelin‐Tirelli, Kristiane; Kessler, Rejane Gus; Bender, Fernanda; Leistner‐Segal, Sandra; Moreno, Carolina A.; Cavalcanti, Denise P.; Giugliani, Roberto; Tomatsu, Shunji Journal: Prenatal diagnosis Issue: Volume 37:Number 5(2017) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. (2nd November 2015) Authors: Tomatsu, Shunji; Sawamoto, Kazuki; Shimada, Tsutomu; Bober, Michael B; Kubaski, Francyne; Yasuda, Eriko; Mason, Robert W; Khan, Shaukat; Alméciga-Díaz, Carlos J; Barrera, Luis A; Mackenzie, William G; Orii, Tadao Journal: Expert opinion on orphan drugs Issue: Volume 3:Number 11(2015:Nov.) Page Start: 1279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Important aspects in the molecular diagnosis of mucopolysaccharidoses. Issue 5 (9th November 2012) Authors: Brusius‐Facchin, Ana Carolina; Kubaski, Francyne; Giugliani, Roberto; Leistner‐Segal, Sandra Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 5(2013) Page Start: 905 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study. (26th December 2022) Authors: Couto, Rowena Rubim; Kubaski, Francyne; Siebert, Marina; Félix, Têmis Maria; Brusius-Facchin, Ana Carolina; Leistner-Segal, Sandra Journal: Neurology Issue: Volume 8:Number 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy. Issue 2 (19th January 2022) Authors: Kubaski, Francyne; Herbst, Zackary M.; Burin, Maira Graeff; Michelin‐Tirelli, Kristiane; Trapp, Franciele B.; Gus, Rejane; Netto, Alice B. O.; Brusius‐Facchin, Ana Carolina; Leistner‐Segal, Sandra; Sanseverino, Maria Teresa; Souza, Carolina Moura Fischinger de; Wilke, Matheus V. M. B.; Oliveira, ... Journal: JIMD reports Issue: Volume 63:Issue 2(2022) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. (January 2018) Authors: Giugliani, Roberto; Vairo, Filippo; Kubaski, Francyne; Poswar, Fabiano; Riegel, Mariluce; Baldo, Guilherme; Saute, Jonas Alex Journal: Lancet Issue: Volume 2:Number 1(2018) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. Issue 1 (7th October 2016) Authors: Kubaski, Francyne; Mason, Robert W.; Nakatomi, Akiko; Shintaku, Haruo; Xie, Li; van Vlies, Naomi N.; Church, Heather; Giugliani, Roberto; Kobayashi, Hironori; Yamaguchi, Seiji; Suzuki, Yasuyuki; Orii, Tadao; Fukao, Toshiyuki; Montaño, Adriana M.; Tomatsu, Shunji Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). (3rd April 2017) Authors: Stapleton, Molly; Kubaski, Francyne; Mason, Robert W.; Yabe, Hiromasa; Suzuki, Yasuyuki; Orii, Kenji E.; Orii, Tadao; Tomatsu, Shunji Journal: Expert opinion on orphan drugs Issue: Volume 5:Number 4(2017:Apr.) Page Start: 295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗