M. Filocamo

R. Biancheri, M. Filocamo, M. Di Rocco, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

A. Federico, C. Bruno, A. Malandrini, 2004, Neurology.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

B. Castellotti, C. Gellera, A. Padovani, 2016, European Journal of Human Genetics.

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

R. Biancheri, M. Filocamo, M. Severino, 2015, Metabolic Brain Disease.

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

S. Regis, M. Filocamo, M. Duca, 2003, Human Genetics.

Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications

E. Bertini, G. Uziel, S. Regis, 2008, Clinical genetics.

Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

A. Tessitore, M. Filocamo, Carmela Di Domenico, 2000, Human Genetics.

A Novel Polymorphic AP‐1 Binding Element of the GFAP Promoter is Associated with Different Allelic Transcriptional Activities

R. Ravazzolo, D. Pareyson, S. Regis, 2010, Annals of human genetics.

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy

S. Grossi, M. Filocamo, A. Biffi, 2016, Human mutation.

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

R. Biancheri, M. Filocamo, L. Siri, 2014, neurogenetics.

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

M. Nöthen, S. Karlsson, M. Mattheisen, 2013, Orphanet Journal of Rare Diseases.

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.

M. Filocamo, A. Superti-Furga, L. Garibaldi, 1983, The Journal of pediatrics.

Functional analysis of 11 novel GBA alleles

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

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

S. Grossi, M. Filocamo, R. Guerrini, 2009, Journal of Neurology.

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011, Orphanet journal of rare diseases.

Molecular Genetic Analysis of the PLP 1 Gene in 38 Families with PLP 1-related disorders : Identification and Functional Characterization of 11 Novel PLP 1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011 .

Characterization of iduronate‐2‐sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR‐based method

S. Regis, F. Corsolini, M. Filocamo, 2005, Human mutation.

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.

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL

S. Salani, N. Bresolin, M. Filocamo, 2006, Human mutation.

Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

S. Regis, F. Corsolini, M. Filocamo, 2001, Prenatal diagnosis.

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate‐2‐sulfatase (IDS) gene

F. Corsolini, M. Filocamo, R. Cusano, 2001, Human mutation.

Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

D. Cooper, S. Regis, S. Grossi, 2013, PloS one.

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

Marco Roos, Domenica Taruscio, Hanns Lochmüller, 2018, European Journal of Human Genetics.

Quantifying the use of bioresources for promoting their sharing in scientific research

Raymond Dalgleish, Anne Cambon-Thomsen, Elena Bravo, 2013, GigaScience.

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

R. Tomanin, M. Filocamo, A. Morrone, 2018, Italian Journal of Pediatrics.

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 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.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

J. Tolmie, P. Mithbaokar, N. Brunetti‐Pierri, 2014, European Journal of Human Genetics.

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.

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

F. Corsolini, R. Biancheri, M. Filocamo, 2005, Neurogenetics.

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

G. Mancini, M. Filocamo, C. Parazzini, 2003, AJNR. American journal of neuroradiology.

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.

Screening of 25 Italian patients with Niemann‐Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

S. Regis, S. Grossi, F. Corsolini, 2004, Human mutation.

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

R. Dicioccio, M. Filocamo, P. Willems, 1994, Human molecular genetics.

Mutations in fucosidosis gene: a review.

M. Filocamo, R. Gatti, G. Tiberio, 1995, Acta geneticae medicae et gemellologiae.

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.

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

S. Regis, F. Corsolini, M. Filocamo, 1998, Human Genetics.

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

F. Baralle, M. Romano, M. Filocamo, 2000, Blood cells, molecules & diseases.

Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.

A. Pierini, R. Brady, P. Erba, 2003, Journal of nuclear medicine : official publication, Society of Nuclear Medicine.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

G. Scarano, M. Filocamo, L. Pavone, 2014, American journal of medical genetics. Part A.

Radiological “metamorphosis” in a patient with severe congenital osteogenesis imperfecta

M. Filocamo, A. Superti-Furga, B. Steinmann, 1990, European Journal of Pediatrics.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

R. Tomanin, C. Rosano, M. Filocamo, 2009, European Journal of Human Genetics.

Mutations among Italian mucopolysaccharidosis type I patients

H. Scott, M. Filocamo, J. Hopwood, 1997, Journal of Inherited Metabolic Disease.

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

M. Filocamo, P. Strisciuglio, C. Beesley, 2007, Molecular genetics and metabolism.

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.

S. Regis, F. Corsolini, M. Filocamo, 2001, Biochimica et biophysica acta.

A deletion involving exons 2–4 in the iduronate‐2‐sulfatase gene of a patient with intermediate Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 1998, Clinical genetics.

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

A. Ballabio, M. Cosma, M. Filocamo, 2007, Human mutation.

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

G. Uziel, M. Filocamo, S. Goldwurm, 2002, Human mutation.

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

R. Ravazzolo, G. Uziel, D. Pareyson, 2007, Clinical genetics.

Leukoencephalopathy with vanishing white matter:

R. Biancheri, M. Filocamo, M. S. van der Knaap, 2003, Neurology.

Unfolded protein response in Gaucher disease: from human to Drosophila

H. Steller, M. Horowitz, D. Segal, 2013, Orphanet Journal of Rare Diseases.

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.

P. Włodarski, M. Filocamo, Marta Koblowska, 2020, neurogenetics.

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

R. Płoski, M. Filocamo, Marta Koblowska, 2019, Scientific Reports.

In vitro recapitulation of the site‐specific editing (to wild‐type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

D. Cooper, N. Pedemonte, F. Corsolini, 2017, Human mutation.

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient

S. Regis, M. Filocamo, G. Serra, 1995, Human Genetics.

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

S. Regis, M. Filocamo, R. Gatti, 1997, Clinical genetics.

First‐trimester fetal nuchal translucency and inherited metabolic disorders

F. Prefumo, M. Filocamo, P. Venturini, 2006, Prenatal diagnosis.

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

R. Ravazzolo, D. Pareyson, R. Biancheri, 2008, European Journal of Human Genetics.

Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?

M. Filocamo, G. Andria, A. Rotondo, 1998, American journal of respiratory and critical care medicine.

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).

F. Corsolini, M. Filocamo, G. Bonuccelli, 2001, American journal of medical genetics.

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

R. Lorini, R. Biancheri, M. Filocamo, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

S. Regis, F. Corsolini, M. Filocamo, 1996, Journal of medical genetics.

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

Robert Reihs, D. Taruscio, M. Roos, 2018, European Journal of Human Genetics.

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

E. Lamantea, C. Rosano, R. Biancheri, 2012, European Journal of Human Genetics.

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

M. Filocamo, W. Lissens, L. Pavone, 2011, Clinical genetics.

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

S. Grossi, M. Filocamo, D. Grinberg, 2008, Human mutation.

Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)

S. Grossi, M. Filocamo, R. Guerrini, 2004, Epilepsia.

Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

A. Gritti, S. Grossi, M. Filocamo, 2018, Cell Death & Disease.

A novel mutation of the β‐glucocererebrosidase gene associated with neurologic manifestations in three sibs

M. Filocamo, G. Andria, L. Titomanlio, 1998 .

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

S. Grossi, F. Corsolini, M. Filocamo, 2016, Molecular genetics and metabolism.

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

S. Regis, M. Filocamo, G. Parenti, 2001 .

Norrbottnian clinical variant of Gaucher disease in Southern Italy

S. Grossi, M. Filocamo, S. Sestito, 2016, Journal of Human Genetics.

Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.

M. Filocamo, G. Bonuccelli, F. Giona, 2000, Blood cells, molecules & diseases.

Sjögren-Larsson syndrome: Nuclear magnetic resonance imaging of the brain in a 4-year-old boy

M. Filocamo, M. Rocco, E. Veneselli, 1994, Journal of Inherited Metabolic Disease.

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.

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

C. Rosano, S. Regis, F. Corsolini, 2007 .

Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

A. Gritti, S. Grossi, M. Filocamo, 2018, Cell Death & Disease.

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

C. Rosano, S. Regis, F. Corsolini, 2007, Human mutation.

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

R. Biancheri, M. Filocamo, L. Siri, 2014, neurogenetics.

Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

M. Filocamo, P. Calvo, S. Lualdi, 2013, Molecular genetics and metabolism.

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

S. Regis, F. Corsolini, M. Filocamo, 2004, European Journal of Human Genetics.

Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

G. Finocchiaro, G. Uziel, D. Pareyson, 2000, Journal of Neurology.

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.

S. Regis, S. Grossi, M. Filocamo, 2014, Gene.

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling.

M. Filocamo, R. Costa, F. Argenton, 2015, Human molecular genetics.

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

A. Tessitore, M. Filocamo, R. Gatti, 2000, Human genetics.

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

M. Filocamo, G. Castaldo, F. Salvatore, 2011, Journal of Molecular Diagnostics.

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.

Genomic Structure of the Human UDP-GlcNAc:dolichol-P GlcNAc-1-P Transferase Gene

S. Regis, M. Filocamo, F. Caroli, 2002, DNA sequence : the journal of DNA sequencing and mapping.

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

S. Regis, F. Corsolini, M. Filocamo, 2000, Blood cells, molecules & diseases.

Homozygosity for a non‐pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease

S. Regis, S. Grossi, M. Filocamo, 2005, American Journal of Medical Genetics. Part A.

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

S. Regis, M. Filocamo, G. Parenti, 2001, Journal of medical genetics.

Molecular analyses in pursuit of a diagnosis of Gaucher disease

M. Filocamo, 2009 .

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

M. Horowitz, M. Filocamo, Gali Maor, 2013, Blood cells, molecules & diseases.

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.

M. Horowitz, M. Filocamo, I. Ron, 2011, Blood cells, molecules & diseases.

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.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

H. Omran, R. Wevers, A. Bertoli-Avella, 2010, Human mutation.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Enhancing Cranial Nerves and Cauda Equina: An Emerging Magnetic Resonance Imaging Pattern in Metachromatic Leukodystrophy and Krabbe Disease

R. Biancheri, M. Filocamo, G. Morana, 2009, Neuropediatrics.

Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele

M. Filocamo, R. Gatti, G. Villani, 1999, Prenatal diagnosis.

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

R. Biancheri, M. Filocamo, M. Severino, 2014, Metabolic Brain Disease.

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.