B. Bembi

B. Bembi, A. Accardo, S. Pensiero, 2005, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Occurrence of Parkinson's syndrome in type I Gaucher disease.

Nir Giladi, B. Bembi, D. Elstein, 1996, QJM : monthly journal of the Association of Physicians.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

B. Ghetti, K. Newell, B. Bembi, 2016, Acta neuropathologica communications.

A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

S. Brodie, R. Desnick, B. Bembi, 2008, Pediatrics.

Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.

B. Bembi, F. Valent, L. Deroma, 2019, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

M. Baumgartner, R. Hagendijk, B. Bembi, 2016, Orphanet Journal of Rare Diseases.

Diagnosis and treatment of the cardiovascular consequences of Fabry disease

B. Bembi, R. Steeds, T. Geberhiwot, 2018, QJM : monthly journal of the Association of Physicians.

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

B. Bembi, A. Moglia, Alfredo Costa, 2010, Genetics in Medicine.

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

B. Bembi, R. Eleopra, S. Rinaldo, 2017, Orphanet Journal of Rare Diseases.

Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy

L. Ronfani, B. Bembi, M. G. Pittis, 2005, Journal of inherited metabolic disease.

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

M. Patterson, B. Bembi, T. Symonds, 2020, Orphanet Journal of Rare Diseases.

Bone complications in children with Gaucher disease.

B. Bembi, R. Wenstrup, M. Terk, 2002, The British journal of radiology.

Intravenous pamidronate treatment in osteogenesis imperfecta.

B. Bembi, A. Parma, C. Martini, 1997, The Journal of pediatrics.

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

M. Patterson, B. Bembi, T. Symonds, 2021, Orphanet Journal of Rare Diseases.

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

B. Bembi, O. Goker-Alpan, N. Belmatoug, 2017, American journal of hematology.

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

R. Schiffmann, B. Bembi, E. Sidransky, 2003, Molecular genetics and metabolism.

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

A. Ballabio, G. Meroni, B. Bembi, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

Gaucher’s disease with Parkinson’s disease

B. Bembi, E. Sidransky, M. Carrozzi, 2003, Neurology.

Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress

G. Tell, B. Bembi, M. Kelley, 2007, Journal of cellular physiology.

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.

T. Beccari, C. Rosano, B. Bembi, 2012, Clinica chimica acta; international journal of clinical chemistry.

Saccade testing in the diagnosis and treatment of type 3 Gaucher disease

B. Bembi, A. Accardo, M. G. Pittis, 2005, Neurology.

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

C. Angelini, M. Ermani, G. Siciliano, 2012, Journal of Neurology.

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

B. Bembi, M. Filocamo, N. Rosso, 2012, JIMD reports.

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

R. Desnick, B. Bembi, L. Salviati, 2018, Journal of Inherited Metabolic Disease.

Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease

B. Bembi, R. Gornati, B. Berra, 2002, Journal of Inherited Metabolic Disease.

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

B. Bembi, G. Nucifora, A. Sechi, 2014, BMC Cardiovascular Disorders.

Generalized arterial calcification of infancy: two siblings with prolonged survival

B. Bembi, N. Ruf, F. Rutsch, 2006, European Journal of Pediatrics.

Cerebrospinal Fluid b-Glucocerebrosidase Activity Is Reduced in Parkinson ’ s Disease Patients

P. Calabresi, L. Parnetti, T. Beccari, 2017 .

Role of LIMP‐2 in the intracellular trafficking of β‐glucosidase in different human cellular models

B. Bembi, M. Deganuto, A. Sechi, 2015, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Substrate reduction therapy in the infantile form of Tay-Sachs disease

B. Bembi, T. Butters, R. Barone, 2006, Neurology.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

B. Bembi, F. Platt, E. Lloyd-Evans, 2014, Annual review of genomics and human genetics.

Chapter 1 Skeletal aspects of Gaucher disease: a review

B. Bembi, R. Wenstrup, N. Weinreb, 2002 .

Skeletal aspects of Gaucher disease: a review.

B. Bembi, R. Wenstrup, N. Weinreb, 2002, The British journal of radiology.

Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.

R. Desnick, B. Bembi, R. Giugliani, 2006, Radiology.

Type B Niemann-Pick Disease: FindingsatChestRadiography,Thin- SectionCT,andPulmonaryFunction

R. Desnick, B. Bembi, R. Giugliani, 2006 .

Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study

B. Bembi, S. Bertoli, B. Grassi, 2020, Orphanet Journal of Rare Diseases.

Management of neuronopathic Gaucher disease: Revised recommendations

R. Schiffmann, B. Bembi, A. Tylki-Szymańska, 2009, Journal of Inherited Metabolic Disease.

5 Neuronopathic forms of Gaucher's disease

R. Schiffmann, B. Bembi, A. Erikson, 1997 .

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

M. Valsecchi, B. Bembi, A. Burlina, 2018, Orphanet Journal of Rare Diseases.

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

B. Bembi, E. Buratti, M. Filocamo, 2006, Human mutation.

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

B. Bembi, E. Buratti, M. Baralle, 2006, Human mutation.

Enzyme Replacement Therapy in Pompe Disease

B. Bembi, A. Sechi, A. Dardis, 2012 .

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.

B. Bembi, C. Hollak, A. Tylki-Szymańska, 2010, Blood cells, molecules & diseases.

Diagnosis of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

B. Bembi, R. D. Da Riol, A. Dardis, 2020, Molecular genetics and metabolism reports.

Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells.

B. Bembi, R. Gornati, B. Berra, 1992, American journal of medical genetics.

Severe Failure to Thrive and Liver Dysfunction as the Main Manifestations of a New Variant of Niemann-Pick Disease

B. Bembi, S. Reif, Z. Spirer, 1994, Clinical pediatrics.

A genetic modifier of symptom onset in Pompe disease

B. Bembi, B. Schoser, W. Pijnappel, 2019, EBioMedicine.

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

B. Bembi, E. Buratti, F. Baralle, 2013, Nucleic acids research.

Infantile sialic acid storage disease: biochemical studies.

G. Mancini, B. Bembi, R. Gornati, 1995, American journal of medical genetics.

Profile of eliglustat tartrate in the management of Gaucher disease

B. Bembi, A. Sechi, A. Dardis, 2016, Therapeutics and clinical risk management.

Gaucher Disease and Bone Manifestations

J. Kanis, M. Brandi, B. Bembi, 2014, Calcified Tissue International.

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

M. Digilio, A. Giannotti, F. Santorelli, 2002 .

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II

B. Bembi, M. Deganuto, M. G. Pittis, 2003, Journal of Inherited Metabolic Disease.

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

B. Bembi, T. Butters, S. Mellon, 2008, Journal of cellular and molecular medicine.

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

G. Rubboli, S. Franceschetti, B. Bembi, 2009, Molecular genetics and metabolism.

Myoclonic Epilepsy in Lysosomal Storage Disorders

B. Bembi, A. Dardis, 2011 .

Cerebrospinal Fluid Lysosomal Enzymes and Alpha-Synuclein in Parkinson's Disease

P. Calabresi, M. Onofrj, L. Bonanni, 2014, Movement disorders : official journal of the Movement Disorder Society.

Treatment of Patients wIth Niemann-Pick Type Is Using Repeated Amniotic Epithelial Cells Implantation: Correction of Aggregation and Coagulation Abnormalities

B. Bembi, R. Boscolo, R. Simeone, 1997, Clinical pediatrics.

Repeated Implantations of Human Amniotic Epithelial Cells as a Curative Therapy of Niemann-Pick Disease

B. Bembi, B. Scaggiante, D. Romeo, 1988 .

Total glycolipid and glucosylceramide content in serum and urine of patients with Gaucher's disease type 3 before and after enzyme replacement therapy.

B. Bembi, R. Gornati, B. Berra, 1998, Clinica chimica acta; international journal of clinical chemistry.

Miglustat (Zavesca®) in type 1 Gaucher disease: 5‐year results of a post‐authorisation safety surveillance programme

B. Bembi, C. Hollak, D. Hughes, 2009, Pharmacoepidemiology and drug safety.

Management of neuronopathic Gaucher disease: A European consensus

B. Bembi, A. Rolfs, A. Tylki-Szymańska, 2001, Journal of Inherited Metabolic Disease.

Response of Gaucher bone disease to enzyme replacement therapy.

B. Bembi, L. Poll, M. Maas, 2002, The British journal of radiology.

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement

G. Andria, J. M. Aerts, B. Bembi, 2003, Journal of Inherited Metabolic Disease.

Post-marketing surveillance of miglustat in type 1 Gaucher disease (GD1)

B. Bembi, C. Hollak, D. Hughes, 2007 .

Enzyme replacement and substrate reduction therapy for Gaucher disease.

Patrick Deegan, B. Bembi, C. Hollak, 2015, The Cochrane database of systematic reviews.

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

B. Bembi, Chiara Perrìa, S. Linari, 2014, Molecular genetics and metabolism.

Gaucher’s disease with Parkinson’s disease: Clinical and pathological aspects

B. Bembi, E. Sidransky, M. Carrozzi, 2003 .

Neuronopathic forms of Gaucher's disease.

R. Schiffmann, B. Bembi, A. Erikson, 1997, Bailliere's clinical haematology.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

J. Szer, B. Bembi, A. Mehta, 2017, Molecular genetics and metabolism.

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

C. Avellini, B. Bembi, A. Sechi, 2021, Molecular genetics and metabolism reports.

Results from a 9‐year Intensive Safety Surveillance Scheme (IS3) in miglustat (Zavesca®)‐treated patients

B. Bembi, D. Hughes, J. Alsop, 2015, Pharmacoepidemiology and drug safety.

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

D. Cooper, M. Mort, B. Bembi, 2010, Human mutation.

Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat

B. Bembi, A. Accardo, S. Pensiero, 2010, Neurology research international.

Bone Marker Alterations in Patients with Type 1 Gaucher Disease

L. Ronfani, B. Bembi, A. Leopaldi, 2003, Calcified Tissue International.

Chapter 3 Response of Gaucher bone disease to enzyme replacement therapy

B. Bembi, L. Poll, M. Maas, 2002 .

Enzyme replacement treatment in type 1 and type 3 Gaucher's disease

B. Bembi, F. Baralle, M. Carrozzi, 1994, The Lancet.

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

B. Bembi, T. Kirkegaard, Arnela Mehmedbasic, 2018, EBioMedicine.

Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients.

B. Bembi, L. Deroma, A. Sechi, 2013, JIMD reports.

Recombinant human acid β-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblasts

B. Bembi, C. Fogher, S. Reggi, 2004, Plant Molecular Biology.

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

K. Vlahovicek, B. Bembi, A. Schenone, 2012, Gene.

Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay‐Sachs disease: detection of fourteen novel alleles

K. Vlahovicek, B. Bembi, F. Corsolini, 2005, Human mutation.

Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study

B. Bembi, L. Deroma, A. Sechi, 2014, European Journal of Pediatrics.

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

B. Bembi, M. Deganuto, M. G. Pittis, 2004, Molecular genetics and metabolism.

Management and treatment of glycogenosis type II

B. Bembi, L. Morandi, G. Parenti, 2008, Neurology.

Functional analysis of 11 novel GBA alleles

C. Rosano, B. Bembi, S. Grossi, 2013, European Journal of Human Genetics.

Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

B. Bembi, Elisa Bregant, G. Damante, 2018, Clinical genetics.

A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients

B. Bembi, F. Corsolini, M. Filocamo, 1995, Clinical genetics.

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

B. Bembi, E. Buratti, M. G. Pittis, 2011, European Journal of Human Genetics.

Enigmatic In Vivo iduronate‐2‐sulfatase (IDS) mutant transcript correction to wild‐type in Hunter syndrome

D. Cooper, B. Bembi, S. Regis, 2010, Human mutation.

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

A. D’Amico, C. Rosano, B. Bembi, 2008, Human mutation.

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

R. Carrozzo, C. Gellera, B. Borroni, 2020, Journal of clinical medicine.

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

A. D’Amico, G. Uziel, C. Rosano, 2009, neurogenetics.

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

A. Federico, B. Bembi, C. Battisti, 2002, Journal of lipid research.

Clinical outcome of fetal uropathy. II. Sensitivity of echography for prenatal detection of obstructive pathology.

B. Bembi, L. Peratoner, L. Paduano, 1991, The Journal of urology.

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

B. Bembi, S. Regis, M. Filocamo, 2006, Journal of Molecular Medicine.

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

B. Bembi, F. Corsolini, M. Filocamo, 2006, Biochimica et biophysica acta.

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

B. Bembi, M. Filocamo, R. Sinnott, 2016, Human mutation.

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease

B. Bembi, M. Filocamo, A. Burlina, 2005, Human mutation.

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

K. Vlahovicek, B. Bembi, E. Buratti, 2009, neurogenetics.

Profile of eliglustat tartrate in the management of Gaucher disease [Corrigendum]

B. Bembi, A. Sechi, A. Dardis, 2016, Therapeutics and clinical risk management.

GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

B. Bembi, A. Dardis, S. Zampieri, 2017, The Journal of molecular diagnostics : JMD.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

S. Packman, B. Bembi, D. Cassiman, 2016, Molecular genetics and metabolism.

Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in‐frame start codon

B. Bembi, M. Filocamo, M. G. Pittis, 2004, Human mutation.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

E. Bertini, O. Gabrielli, A. D’Amico, 2015, Orphanet Journal of Rare Diseases.

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

B. Bembi, E. Favari, M. Adorni, 2012, Molecular genetics and metabolism.

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.

E. Bertini, A. D’Amico, B. Bembi, 2013, Molecular genetics and metabolism.

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

M. Patterson, B. Bembi, P. Gissen, 2021, Orphanet Journal of Rare Diseases.

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

B. Bembi, R. Giugliani, M. Wasserstein, 2020, Orphanet Journal of Rare Diseases.

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin

C. Beltrami, B. Bembi, R. Domenis, 2013, Orphanet Journal of Rare Diseases.

Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment

M. Patterson, B. Bembi, M. Gautschi, 2020 .

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

O. Sommerburg, I. Borggraefe, B. Bembi, 2015, JIMD reports.

Arimoclomol as a potential therapy for neuronopathic Gaucher Disease

B. Bembi, T. Kirkegaard, A. Dardis, 2018, bioRxiv.

Sea-blue histiocytes in bone marrow of patient with Niemann-Pick disease type B.

B. Bembi, P. Doretto, A. Candoni, 2001, Haematologica.

Aminohydroxypropylidene‐biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3

B. Bembi, L. Vidoni, M. Zanatta, 1994, Acta paediatrica.

Short-term effects of pamidronate in patients with Gaucher's disease and severe skeletal involvement.

B. Bembi, M. Cuttini, G. Ciana, 1997, The New England journal of medicine.

Genotype-phenotype correlation in Pompe disease, a step forward

C. Angelini, G. Siciliano, P. Tonin, 2014, Orphanet Journal of Rare Diseases.

microRNAs as biomarkers in Pompe disease

L. Santoro, B. Bembi, S. Banfi, 2018, Genetics in Medicine.

Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease

B. Bembi, B. Grassi, D. Salvadego, 2017, Neuromuscular Disorders.

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

B. Bembi, M. Deganuto, M. G. Pittis, 2003, American journal of medical genetics. Part A.

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II

B. Bembi, A. Moglia, Alfredo Costa, 2010, Journal of Inherited Metabolic Disease.

Role of Lysosomal Enzymes in Parkinson’s Disease: Lesson from Gaucher’s Disease

P. Calabresi, L. Parnetti, T. Beccari, 2011 .

Pulmonary involvement in an adult female affected by type B Niemann Pick disease.

B. Bembi, A. Cavazza, M. G. Pittis, 2005, Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG.

Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases

S. Packman, B. Bembi, D. Cassiman, 2016 .

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.

B. Borroni, F. Brancati, B. Bembi, 2016, Clinica chimica acta; international journal of clinical chemistry.

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

E. Valente, G. Siciliano, P. Tonin, 2023, Current issues in molecular biology.

ALP Isoenzyme Separation in Type 1 Gaucher Disease

B. Bembi, M. Cuttini, C. Martini, 2000, Clinical chemistry and laboratory medicine.

Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence.

Y. Chien, W. Hwu, B. Bembi, 2008, Journal of structural biology.

1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.

B. Bembi, F. Baralle, R. Tuteja, 1993, Human Molecular Genetics.

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

N. Tuteja, B. Bembi, F. Baralle, 1994, Human Genetics.

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

B. Bembi, D. Grinberg, L. Vilageliu, 2011, Molecular genetics and metabolism.

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

K. Vlahovicek, B. Bembi, M. Filocamo, 2005, Human mutation.

Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein

B. Bembi, M. G. Pittis, S. Dominissini, 2004, Human Heredity.

Endosperm-specific expression of human acid beta-glucosidase in a waxy rice

B. Bembi, R. Musetti, S. Marchetti, 2012, Rice.

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha‐mannosidosis

T. Beccari, P. Heikinheimo, B. Bembi, 2005, Human mutation.

Gaucher Disease and Bone Manifestations

C. Cooper, J. Reginster, R. Rizzoli, 2014, Calcified Tissue International.

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

A. Galione, B. Bembi, F. Platt, 2019, Journal of inherited metabolic disease.

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].

S. Packman, B. Bembi, D. Cassiman, 2017, Molecular genetics and metabolism.

Enzyme Replacement Therapy for Type I Gaucher Disease

B. Bembi, G. Pastores, A. Zimran, 2006 .

1448C mutation linked to the Pv1 patients with Gaucher disease

B. Bembi, R. Tuteja, E. Agosti, 1993 .

Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients

B. Bembi, L. Deroma, A. Dardis, 2012, Journal of Inherited Metabolic Disease.

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

T. Beccari, P. Heikinheimo, B. Bembi, 2007, Clinica chimica acta; international journal of clinical chemistry.

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

B. Bembi, A. Dardis, S. Zampieri, 2014, PloS one.

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

B. Bembi, R. Giugliani, M. Wasserstein, 2021, Orphanet Journal of Rare Diseases.

Results from a 9‐year Intensive Safety Surveillance Scheme (IS3) in miglustat (Zavesca®)‐treated patients

B. Bembi, D. Hughes, J. Alsop, 2015, Pharmacoepidemiology and drug safety.

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

G. Rubboli, S. Franceschetti, B. Bembi, 2009, Molecular genetics and metabolism.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

B. Ghetti, B. Bembi, E. Buratti, 2016, Acta Neuropathologica Communications.

Myoclonic Epilepsy in Lysosomal Storage Disorders

B. Bembi, A. Dardis, 2011 .

Profile of eliglustat tartrate in the management of Gaucher disease

B. Bembi, A. Sechi, A. Dardis, 2016, Therapeutics and clinical risk management.

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

G. Uziel, C. Rosano, B. Bembi, 2012, PloS one.

microRNAs as biomarkers in Pompe disease

L. Santoro, B. Bembi, S. Banfi, 2018, Genetics in Medicine.