| Occurrence of Parkinson's syndrome in type 1 Gaucher disease O Neudorfer, N Giladi, D Elstein, A Abrahamov, T Turezkite, E Aghai, ... QJM: An International Journal of Medicine 89 (9), 691-694, 1996 | 502 | 1996 |
| Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? N Tayebi, J Walker, B Stubblefield, E Orvisky, ME LaMarca, K Wong, ... Molecular genetics and metabolism 79 (2), 104-109, 2003 | 386 | 2003 |
| Skeletal aspects of Gaucher disease: a review RJ Wenstrup, M Roca-Espiau, NJ Weinreb, B Bembi The British journal of radiology 75 (suppl_1), A2-A12, 2002 | 355 | 2002 |
| Recommendations on the diagnosis and management of Niemann-Pick disease type C JE Wraith, MR Baumgartner, B Bembi, A Covanis, T Levade, E Mengel, ... Molecular genetics and metabolism 98 (1-2), 152-165, 2009 | 299 | 2009 |
| The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement TM Cox, J Aerts, G Andria, M Beck, N Belmatoug, B Bembi, R Chertkoff, ... Journal of inherited metabolic disease 26 (6), 513-526, 2003 | 295 | 2003 |
| Consensus clinical management guidelines for Niemann-Pick disease type C T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ... Orphanet journal of rare diseases 13, 1-19, 2018 | 275 | 2018 |
| Cerebrospinal fluid lysosomal enzymes and alpha‐synuclein in Parkinson's disease L Parnetti, D Chiasserini, E Persichetti, P Eusebi, S Varghese, ... Movement Disorders 29 (8), 1019-1027, 2014 | 258 | 2014 |
| Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study M Pineda, JE Wraith, E Mengel, F Sedel, WL Hwu, M Rohrbach, B Bembi, ... Molecular genetics and metabolism 98 (3), 243-249, 2009 | 219 | 2009 |
| A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B MM McGovern, MP Wasserstein, R Giugliani, B Bembi, MT Vanier, ... Pediatrics 122 (2), e341-e349, 2008 | 213 | 2008 |
| Management of neuronopathic Gaucher disease: a European consensus A Vellodi, B Bembi, TB De Villemeur, T Collin-Histed Journal of inherited metabolic disease 24 (3), 319, 2001 | 192 | 2001 |
| Gaucher’s disease with Parkinson’s disease: clinical and pathological aspects B Bembi, S Zambito Marsala, E Sidransky, G Ciana, M Carrozzi, M Zorzon, ... Neurology 61 (1), 99-101, 2003 | 174 | 2003 |
| Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy AB Burlina, G Polo, L Salviati, G Duro, C Zizzo, A Dardis, B Bembi, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018 | 172 | 2018 |
| Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ... Journal of neurology 259, 952-958, 2012 | 158 | 2012 |
| Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II ALE Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, ... Human mutation 27 (10), 999-1006, 2006 | 152 | 2006 |
| Management of neuronopathic Gaucher disease: revised recommendations A Vellodi, A Tylki‐Szymanska, EH Davies, E Kolodny, B Bembi, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 149 | 2009 |
| Pharmacological enhancement of mutated α-glucosidase activity in fibroblasts from patients with Pompe disease G Parenti, A Zuppaldi, MG Pittis, MR Tuzzi, I Annunziata, G Meroni, ... Molecular Therapy 15 (3), 508-514, 2007 | 149 | 2007 |
| European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience AT van der Ploeg, ME Kruijshaar, A Toscano, P Laforêt, C Angelini, ... European journal of neurology 24 (6), 768-e31, 2017 | 148 | 2017 |
| Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone S Zampieri, SH Mellon, TD Butters, M Nevyjel, DF Covey, B Bembi, ... Journal of cellular and molecular medicine 13 (9b), 3786-3796, 2009 | 144 | 2009 |
| Deconstructing pompe disease by analyzing single muscle fibers:“To see a world in a grain of sand…” N Raben, S Takikita, MG Pittis, B Bembi, SKN Marie, A Roberts, L Page, ... Autophagy 3 (6), 546-552, 2007 | 143 | 2007 |
| Diagnosis of glycogenosis type II B Bembi, E Cerini, C Danesino, MA Donati, S Gasperini, L Morandi, ... Neurology 71 (23_suppl_2), S4-S11, 2008 | 142 | 2008 |
Sabrina RavagliaPavia在 unipv.it 的电子邮件经过验证
