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Emilia Bellone

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Simonetta Verdiani; Vittorio Mantero; Paola Origone; Monica Bandettini Di Poggio; Emilia Bellone; Claudia Caponnetto; Alessandro Geroldi; Gianluigi Mancardi; Paola Mandich
The FIG4 gene does not play a major role in causing ALS in Italian patients.
Fiore Manganelli; Maria Nolano; Chiara Pisciotta; Emilia Bellone; Simona Capponi; Alessandro Geroldi; Paola Mandich; Arvid Suls; Antonietta Topa; Lucio Santoro
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Paola Origone; Simonetta Verdiani; Vittorio Mantero; Emilia Bellone; Claudia Caponnetto; Elena Cichero; Paola Fossa; Gianluigi Mancardi; Paola Mandich
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype.

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2013: Simonetta Verdiani; Vittorio Mantero; Paola Origone; Monica Bandettini Di Poggio; Emilia Bellone; Claudia Caponnetto; Alessandro Geroldi; Gianluigi Mancardi; Paola Mandich
The FIG4 gene does not play a major role in causing ALS in Italian patients.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2013;14(3):228-9.
2012: Fiore Manganelli; Maria Nolano; Chiara Pisciotta; Emilia Bellone; Simona Capponi; Alessandro Geroldi; Paola Mandich; Arvid Suls; Antonietta Topa; Lucio Santoro
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Journal of the peripheral nervous system : JPNS 2012;17(3):351-5.
2012: Paola Origone; Simonetta Verdiani; Vittorio Mantero; Emilia Bellone; Claudia Caponnetto; Elena Cichero; Paola Fossa; Gianluigi Mancardi; Paola Mandich
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2012;13(4):398-9.
2012: Valeria Prada; Sara Scazzola; Angelo Schenone; chris hall; Emilia Bellone; Maria Bono; Simona Capponi; Paola Luzzi; Gianluigi Mancardi; Paola Mandich; Lucilla Alessandra Nobbio; Mario Passalacqua; Marina Grandis
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
Annals of neurology 2012;71(3):427-31.
2011: Paola Ciotti; Roberto Fiocca; Paola Mandich; Pietro Ameri; Emilia Bellone; Marta Bovio; Paola Ceppa; Giancarlo Torre; Giovanni Murialdo
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens.
American journal of medical genetics. Part A 2011;155A(11):2750-3.
2011: A Novelletto; T Pippucci; M Seri; C Vitale; Paolo Martinelli; Giovanni Abbruzzese; Paolo Barone; Emilia Bellone; L Bilo; Paola Blasi; P Ciotti; A Cozzolino; Rossella Gulli; P Malaspina; Paola Mandich
Linkage exclusion in Italian families with hereditary essential tremor.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2011;18(9):e118-20.
2011: Giovanni Maggi; Margherita Monti Bragadin; Luca Padua; L Reni; Riccardo Saporiti; Emilia Bellone; Alessandra Bennicelli; Emanuele Crimi; Elisabetta Fiorina; Marina Grandis; Manuela Grosso; Debora Scorsone; Riccardo Zuccarino; Angelo Schenone
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study.
American journal of physical medicine & rehabilitation / Association of Academic Physiatrists 2011;90(8):628-37.
2010: Marina Grandis; Rossella Gulli; Denise Cassandrini; Elisabetta Gazzerro; Luana Benedetti; Eleonora Narciso; Lucilla Nobbio; Claudio Bruno; Carlo Minetti; Emilia Bellone; L Reni; Giovanni Luigi Mancardi; Paola Mandich; Angelo Schenone
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010;31(3):377-80.
2010: Paola Origone; Claudia Caponnetto; Monica Bandettini Di Poggio; Elisabetta Ghiglione; Emilia Bellone; Giovanna Ferrandes; Giovanni Luigi Mancardi; Paola Mandich
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2010;11(1-2):223-7.
2010: Paola Mandich; Marina Grandis; A Varese; Alessandro Geroldi; Massimo Acquaviva; Paola Ciotti; Rossella Gulli; Laura Doria-Lamba; Gian Maria Fabrizi; Gaia Giribaldi; Antonio Pizzuti; Angelo Schenone; Emilia Bellone
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.
Journal of child neurology 2010;25(1):107-9.
2009: Paola Ciotti; Anna Garuti; Rossella Gulli; Alberto Ballestrero; Emilia Bellone; Paola Mandich
Germline mutations in the von Hippel-Lindau gene in Italian patients.
European journal of medical genetics 2009;52(5):311-4.
2009: Paola Mandich; Paola Fossa; Simona Capponi; Alessandro Geroldi; Massimo Acquaviva; Rossella Gulli; Paola Ciotti; Fiore Manganelli; Marina Grandis; Emilia Bellone
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
European journal of human genetics : EJHG 2009;17(9):1129-34.
2009: Paola Ciotti; Anna Garuti; Alberto Ballestrero; Gabriella Cirmena; maurizio chiaramondia; Paola Baccini; Emilia Bellone; Paola Mandich
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2009;18(2):112-8.
2009: Carmine Vitale; P Ciotti; R Gulli; Emilia Bellone; Cesa Scaglione; Giovanni Abbruzzese; Paolo Martinelli; Paolo Barone; Paola Mandich
Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients.
Parkinsonism & related disorders 2009;15(2):162-3.
2008: Carmine Vitale; R Gulli; P Ciotti; C Scaglione; Emilia Bellone; L Avanzino; F Lantieri; Giovanni Abbruzzese; P Martinelli; Paolo Barone; Paola Mandich
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2008;15(9):985-7.
2008: Paola Mandich; Marina Grandis; Alessandro Geroldi; Massimo Acquaviva; A Varese; Rossella Gulli; Paola Ciotti; Emilia Bellone
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
Journal of human genetics 2008;53(6):529-33.
2007: Rossella Gulli; Bianca Masnata; Cristian Bonvicini; Gian Battista Tura; Luciano Manglaviti; Marco Vaggi; Marco Mollica; Emilia Bellone; Paola Mandich; Massimo Gennarelli; Emilio Di Maria
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study.
Psychiatric genetics 2007;17(6):355-6.
2006: Emilio Di Maria; Antonella Marasco; Marzia Tartari; Paola Ciotti; Giovanni Abbruzzese; Giuseppe Novelli; Emilia Bellone; Elena Cattaneo; Paola Mandich
No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease.
Neurobiology of disease 2006;24(2):274-9.
2006: Roberta Biancheri; Federico Zara; Pasquale Striano; Marina Pedemonte; Denise Cassandrini; Silvia Stringara; Fiore Manganelli; Lucio Santoro; Angelo Schenone; Emilia Bellone; Carlo Minetti
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Journal of neurology 2006;253(9):1234-5.
2006: Emilia Bellone; Piercesare Balestra; G Ribizzi; Angelo Schenone; G Zocchi; Emilio Di Maria; Franco Ajmar; Paola Mandich
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
Journal of neurology, neurosurgery, and psychiatry 2006;77(4):538-40.
2005: Adalberto Sessa; Graziana Battini; Mietta Meroni; Francesco Pitingolo; Marco Righetti; Paola Ciotti; Emilio Di Maria; Emilia Bellone; Franco Ajmar; Paola Mandich
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation.
Journal of nephrology 2005;18(2):209-12.
2004: Paola Ciotti; Emilio Di Maria; Emilia Bellone; Franco Ajmar; Paola Mandich
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.
The Journal of molecular diagnostics : JMD 2004;6(4):285-9.
2004: Emilio Di Maria; Rossella Gulli; Piercesare Balestra; Denise Cassandrini; Simona Pigullo; Laura Doria-Lamba; Massimo Bado; Angelo Schenone; Franco Ajmar; Paola Mandich; Emilia Bellone
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
Journal of neurology, neurosurgery, and psychiatry 2004;75(10):1495-8.
2004: Giovanni Abbruzzese; Simona Pigullo; Angelo Schenone; Emilia Bellone; Roberta Marchese; Emilio Di Maria; Luana Benedetti; Paola Ciotti; Lucilla Nobbio; Vincenzo Bonifati; Franco Ajmar; Paola Mandich
Does parkin play a role in the peripheral nervous system? A family report.
Movement disorders : official journal of the Movement Disorder Society 2004;19(8):978-81.
2004: Simona Pigullo; Alessandro De Luca; Paolo Barone; Roberta Marchese; Emilia Bellone; Alessia Colosimo; Cesa Scaglione; Paolo Martinelli; Emilio Di Maria; Antonio Pizzuti; Giovanni Abbruzzese; Bruno Dallapiccola; Franco Ajmar; Paola Mandich
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Parkinsonism & related disorders 2004;10(6):357-62.
2004: Emilio Di Maria; Rossella Gulli; Silvia Begni; Alessandro De Luca; Stefano Bignotti; Augusto Pasini; Emilia Bellone; Antonio Pizzuti; Bruno Dallapiccola; Giuseppe Novelli; Franco Ajmar; Massimo Gennarelli; Paola Mandich
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;128B(1):27-9.
2004: Lucio Santoro; Fiore Manganelli; Emilio Di Maria; Domenico Bordo; Denise Cassandrini; Franco Ajmar; Paola Mandich; Emilia Bellone
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Journal of neurology, neurosurgery, and psychiatry 2004;75(2):262-5.
2003: Simona Pigullo; Emilio Di Maria; Roberta Marchese; Emilia Bellone; Rossella Gulli; Cesa Scaglione; Stella Battaglia; Paolo Barone; Paolo Martinelli; Giovanni Abbruzzese; Franco Ajmar; Paola Mandich
Essential tremor is not associated with alpha-synuclein gene haplotypes.
Movement disorders : official journal of the Movement Disorder Society 2003;18(7):823-6.
2003: Marco Musso; Piercesare Balestra; Franco Taroni; Emilia Bellone; Paola Mandich
Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
Neurobiology of disease 2003;12(1):89-95.
2002: Katrien Venken; Emilio Di Maria; Emilia Bellone; Piercesare Balestra; Denise Cassandrini; Paola Mandich; Peter De Jonghe; Vincent Timmerman; John Svaren
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.
Neurogenetics 2002;4(1):37-41.
2002: Emilia Bellone; Carmelo Rodolico; Antonio Toscano; Emilio Di Maria; Denise Cassandrini; Antonio Pizzuti; Simona Pigullo; Anna Mazzeo; Vincenzo Macaione; Paolo Girlanda; Giuseppe Vita; Franco Ajmar; Paola Mandich
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.
Neuromuscular disorders : NMD 2002;12(3):286-91.
2001: M Musso; Piercesare Balestra; Emilia Bellone; Denise Cassandrini; Emilio Di Maria; L L Doria; Marina Grandis; Giovanni Luigi Mancardi; Angelo Schenone; Giovanni Levi; Franco Ajmar; Paola Mandich
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter.
Neurobiology of disease 2001;8(4):700-6.
2001: Giovanni Abbruzzese; Simona Pigullo; Emilio Di Maria; Paolo Martinelli; Paolo Barone; Roberta Marchese; Cesa Scaglione; Andrea Assini; Claudio Lucetti; A Berardelli; Stefano Calzetti; Emilia Bellone; Franco Ajmar; Paola Mandich
Clinical and genetic study of essential tremor in the Italian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):39-40.
2001: Simona Pigullo; E Di Maria; Roberta Marchese; Andrea Assini; Emilia Bellone; Cesa Scaglione; C Vitale; Ubaldo Bonuccelli; Paolo Barone; Franco Ajmar; Paolo Martinelli; Giovanni Abbruzzese; Paola Mandich
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.
Journal of neural transmission (Vienna, Austria : 1996) 2001;108(3):297-304.
2000: Ferdinando Squitieri; G Sabbadini; Paola Mandich; Cinzia Gellera; Emilio Di Maria; Emilia Bellone; Barbara Castellotti; E Nargi; U de Grazia; Marina Frontali; Andrea Novelletto
Family and molecular data for a fine analysis of age at onset in Huntington disease.
American journal of medical genetics 2000;95(4):366-73.
2000: Emilio Di Maria; Massimo Tabaton; Tiziana Vigo; Giovanni Abbruzzese; Emilia Bellone; C Donati; E Frasson; Roberta Marchese; P Montagna; D G Munoz; Peter P Pramstaller; Gianluigi Zanusso; Franco Ajmar; Paola Mandich
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy.
Annals of neurology 2000;47(3):374-7.
1999: Emilia Bellone; Emilio Di Maria; S Soriani; A Varese; L L Doria; Franco Ajmar; Paola Mandich
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
Human mutation 1999;14(4):353-4.
1999: Antonio Pizzuti; Giuseppe Novelli; Antonia Ratti; Francesca Amati; Roberta Bordoni; Paola Mandich; Emilia Bellone; Emanuela Conti; Mario Bengala; A Mari; Vincenzo Silani; Bruno Dallapiccola
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.
Molecular genetics and metabolism 1999;67(3):227-35.
1999: Paola Mandich; Giovanni Luigi Mancardi; A Varese; S Soriani; Emilio Di Maria; Emilia Bellone; Massimo Bado; L Gross; Anthony J Windebank; Franco Ajmar; Angelo Schenone
Congenital hypomyelination due to myelin protein zero Q215X mutation.
Annals of neurology 1999;45(5):676-8.
1999: Paola Mandich; Emilia Bellone; Emilio Di Maria; Simona Pigullo; Antonio Pizzuti; Angelo Schenone; S Soriani; A Varese; Anthony J Windebank; Franco Ajmar
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II.
American journal of medical genetics 1999;83(5):409-10.
1998: Paola Mandich; Gioia Jacopini; Emilio Di Maria; G Sabbadini; Giovanni Abbruzzese; F Chimirri; Emilia Bellone; Andrea Novelletto; Franco Ajmar; Marina Frontali
Predictive testing for Huntington's disease: ten years' experience in two Italian centres.
Italian journal of neurological sciences 1998;19(2):68-74.
1998: Paola Mandich; Mariapina Montera; Emilia Bellone; A Trojani; S Daniele; Franco Ajmar
Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
Human mutation 1998;Suppl 1():S268-70.
1997: Anna Maria Schito; Antonio Pizzuti; Emilio Di Maria; Angelo Schenone; Antonia Ratti; Raffaella Defferrari; Emilia Bellone; Giovanni Luigi Mancardi; Franco Ajmar; Paola Mandich
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit.
Neuroscience letters 1997;239(1):49-53.
1997: Angelo Schenone; Lucilla Nobbio; Claudia Caponnetto; Michele Abbruzzese; Paola Mandich; Emilia Bellone; Franco Ajmar; Gianfranco Gherardi; Anthony J Windebank; Gianluigi Mancardi
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies.
Annals of neurology 1997;42(6):866-72.
1997: Paola Mandich; Emilia Bellone; Mariapina Montera; Franco Ajmar; Angelo Schenone; Lucilla Nobbio; Gianluigi Mancardi; A Pizzuti; Antonia Ratti; Anthony J Windebank
Comments on Davar et al., Pain, 67 (1996) 135-139.
Pain 1997;72(1-2):287-8.
1997: Angelo Schenone; Lucilla Nobbio; Paola Mandich; Emilia Bellone; Michele Abbruzzese; F Aymar; Giovanni Luigi Mancardi; Anthony J Windebank
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies.
Neurology 1997;48(2):445-9.
1997: Mariapina Montera; Emilia Bellone; Franco Ajmar; Paola Mandich
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease.
Contributions to nephrology 1997;122():109-11.
1996: Paola Mandich; Emilia Bellone; Angelo Schenone; G Mancardi; Michele Abbruzzese; Franco Ajmar
De novo duplication in Charcot-Marie-Tooth type 1A.
American journal of human genetics 1996;59(3):739-40.
1996: Emilia Bellone; Angelo Schenone; G Mancardi; G A Nicholson; Michele Abbruzzese; Franco Ajmar; Paola Mandich
Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients.
Neuroscience letters 1996;213(1):71-3.
1996: Paola Mandich; Emilio Di Maria; Emilia Bellone; Franco Ajmar; Giovanni Abbruzzese
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.
European neurology 1996;36(6):348-52.
1996: Eva Nelis; Christine Van Broeckhoven; Peter De Jonghe; Ann Löfgren; Antoon Vandenberghe; Philippe Latour; E Le Guern; Alexis Brice; Maria Luisa Mostacciuolo; Franco Schiavon; Francesc Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; Paola Mandich; Emilia Bellone; K Silander; Marja-Liisa Savontaus; Ruth Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG 1996;4(1):25-33.
1996: Emilia Bellone; Paola Mandich; R James; Eva Nelis; L D Lamba; Christine Van Broeckhoven; Franco Ajmar
Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease.
Human mutation 1996;7(4):377-8.
1995: R James; Emilia Bellone; Eva Nelis; Paola Mandich; Angelo Schenone; G Mancardi; Christine Van Broeckhoven; Michele Abbruzzese; Franco Ajmar
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding.
Neuroscience letters 1995;194(1-2):136-8.
1995: G L Mancardi; Paola Mandich; S Nassani; Angelo Schenone; R James; R Defferrari; Emilia Bellone; M Giunchedi; Franco Ajmar; Michele Abbruzzese
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion.
Journal of the neurological sciences 1995;131(1):30-4.
1995: Paola Mandich; R James; S Nassani; R Defferrari; Emilia Bellone; G Mancardi; Angelo Schenone; Michele Abbruzzese; M Rocchi; Franco Ajmar
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.
Journal of neurology 1995;242(5):295-8.
1994: Andrea Novelletto; Francesca Persichetti; G Sabbadini; Paola Mandich; Emilia Bellone; Franco Ajmar; F Squitieri; G Campanella; A Bozza; Marcy E MacDonald
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
Human molecular genetics 1994;3(7):1129-32.
1994: Paola Mandich; A M Schito; Emilia Bellone; Rachele Antonacci; P Finelli; Mariano Rocchi; Franco Ajmar
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12.
Genomics 1994;22(1):216-8.
1994: Angelo Schenone; Michele Abbruzzese; Antonio Uccelli; Paola Mandich; R James; Emilia Bellone; M Giunchedi; S Rolando; Elisabetta Capello; P ] Mandich R [corrected to Mandich
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases.
Journal of the neurological sciences 1994;122(1):20-7.
1994: Angelo Sghirlanzoni; Davide Pareyson; R Marazzi; Guido Cavaletti; Emilia Bellone; Paola Mandich; M R Balestrini; D Riva
Homozygous hypertrophic hereditary motor and sensory neuropathies.
Italian journal of neurological sciences 1994;15(1):5-14.
1994: Andrea Novelletto; Francesca Persichetti; G Sabbadini; Paola Mandich; Emilia Bellone; Franco Ajmar; M Pergola; L Del Senno; Marcy E MacDonald; James Gusella
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.
Human molecular genetics 1994;3(1):93-8.
1994: G L Mancardi; Antonio Uccelli; Emilia Bellone; Angelo Sghirlanzoni; Paola Mandich; Davide Pareyson; Angelo Schenone; Michele Abbruzzese; Franco Ajmar
17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.
European neurology 1994;34(3):135-9.
1993: Bruno Dallapiccola; Paola Mandich; Emilia Bellone; A Selicorni; V Mokin; Franco Ajmar; Giuseppe Novelli
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
American journal of medical genetics 1993;47(6):921-4.
1992: Angelo Sghirlanzoni; Davide Pareyson; M R Balestrini; Emilia Bellone; E Berta; Claudia Ciano; Paola Mandich; R Marazzi
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene.
Neurology 1992;42(11):2201-4.
1992: Emilia Bellone; Paola Mandich; G L Mancardi; Angelo Schenone; Antonio Uccelli; Michele Abbruzzese; Angelo Sghirlanzoni; Davide Pareyson; Franco Ajmar
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.
Journal of medical genetics 1992;29(7):492-3.
1992: Paola Mandich; Emilia Bellone; Antonio Uccelli; Davide Pareyson; Franco Ajmar
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus.
Bollettino della Società italiana di biologia sperimentale 1992;68(4):225-30.
1991: Emilia Bellone; Paola Mandich; P Costa; L Dalerba; Franco Ajmar
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers.
Bollettino della Società italiana di biologia sperimentale 1991;67(10-11):915-22.
1991: Paola Mandich; Emilia Bellone; A Massari; Franco Ajmar
Polymerase chain reaction (PCR) amplification of hypervariable genomic sequences.
Bollettino della Società italiana di biologia sperimentale 1991;67(10-11):907-13.
1991: Andrea Novelletto; Paola Mandich; Emilia Bellone; Patrizia Malaspina; G Vivona; Franco Ajmar; Marina Frontali
Non-random association between DNA markers and Huntington disease locus in the Italian population.
American journal of medical genetics 1991;40(3):374-6.
1991: Franco Ajmar; Paola Mandich; Emilia Bellone; Giovanni Abbruzzese
Genetic analysis of Huntington disease in Italy.
American journal of medical genetics 1991;39(2):211-4.
1991: Paolo Gasparini; Paola Mandich; Giuseppe Novelli; Emilia Bellone; Federica Sangiuolo; F De Stefano; L Potenza; Elisabetta Trabetti; Mario Marigo; Pier Franco Pignatti
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms.
Human heredity 1991;41(3):174-81.
1990: Paola Mandich; Gabriella Restagno; Giuseppe Novelli; Emilia Bellone; L Potenza; O Varetto; B Dallapiccola; A Carbonara; Franco Ajmar
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.
American journal of medical genetics 1990;35(4):579-81.
1989: L Potenza; Paola Mandich; Gabriella Restagno; Emilia Bellone; Giuseppe Novelli; B Dallapiccola; Franco Ajmar; A Carbonara
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD.
Progress in clinical and biological research 1989;305():77-81.
1981: G Borello; Emilia Bellone; G C Bulgarelli; A De Bernardi; R Bevilacqua; A Pizzuti; A Alvino; M Abrate; P F Angelino
[Indications for temporary electrostimulation in acute myocardial infarct].
Minerva cardioangiologica 1981;29(4):137-42.
1981: G Rolla; Caterina Bianca Bucca; M Sclavo; G Borello; Emilia Bellone
Relation between respiratory function and pulmonary hemodynamics before and after intravenous administration of furosemide in acute myocardial infarction.
Respiration; international review of thoracic diseases 1981;42(3):161-7.