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Maria Muglia

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Angela Magariello; Rosalucia Mazzei; L Citrigno; Francesca Luisa Conforti; Maria Liguori; Alessandra Patitucci; Isabella Laura Simone; R Tortelli; C Tortorella; Carmine Ungaro; Maria Muglia
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
Francesca Luisa Conforti; Antonio Gambardella; Francesco Bono; Francesca Cavalcanti; Tiziana Colletti; Francesca Condino; Giancarlo Logroscino; Angela Magariello; Rosalucia Mazzei; MariaRosaria Monsurrò; Maria Muglia; Alessandra Patitucci; Carmelo Rodolico; Isabella Laura Simone; Rossella Spataro; William Sproviero; Paola Valentino; Vincenzo La Bella
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Angela Magariello; Rosalucia Mazzei; Luigi Citrigno; Francesca Luisa Conforti; Antonio Gambardella; Alessandra Patitucci; William Sproviero; Rosanna Tortelli; Carla Tortorella; Carmine Ungaro; Maria Muglia
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

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All Publications

2013: Angela Magariello; Rosalucia Mazzei; L Citrigno; Francesca Luisa Conforti; Maria Liguori; Alessandra Patitucci; Isabella Laura Simone; R Tortelli; C Tortorella; Carmine Ungaro; Maria Muglia
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2013;20(1):e22-3.
2012: Francesca Luisa Conforti; Antonio Gambardella; Francesco Bono; Francesca Cavalcanti; Tiziana Colletti; Francesca Condino; Giancarlo Logroscino; Angela Magariello; Rosalucia Mazzei; MariaRosaria Monsurrò; Maria Muglia; Alessandra Patitucci; Carmelo Rodolico; Isabella Laura Simone; Rossella Spataro; William Sproviero; Paola Valentino; Vincenzo La Bella
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.
Neurology 2012;79(24):2315-20.
2012: Angela Magariello; Rosalucia Mazzei; Luigi Citrigno; Francesca Luisa Conforti; Antonio Gambardella; Alessandra Patitucci; William Sproviero; Rosanna Tortelli; Carla Tortorella; Carmine Ungaro; Maria Muglia
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.
Muscle & nerve 2012;45(6):919-20.
2012: William Sproviero; Gioacchino Tedeschi; Carmine Ungaro; Paola Valentino; Francesco Bono; Luigi Citrigno; Francesca Condino; Antonio Gambardella; Vincenzo La Bella; Giancarlo Logroscino; Angela Magariello; Rosalucia Mazzei; MariaRosaria Monsurrò; Maria Muglia; Alessandra Patitucci; Aldo Quattrone; Carmelo Rodolico; Isabella Laura Simone; Rossella Spataro; Francesca Luisa Conforti
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
Neurobiology of aging 2012;33(4):837.e1-5.
2011: Antonio Cerasa; Aldo Quattrone; Maria Cecilia Gioia; Angela Magariello; Maria Muglia; Francesca Assogna; Sergio Bernardini; Carlo Caltagirone; Paola Bossù; Gianfranco Spalletta
MAO A VNTR polymorphism and amygdala volume in healthy subjects.
Psychiatry research 2011;191(2):87-91.
2010: Antonio Cerasa; Andrea Cherubini; Aldo Quattrone; Maria Cecilia Gioia; Angela Magariello; Maria Muglia; Ida Manna; Francesca Assogna; Carlo Caltagirone; Gianfranco Spalletta
Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement.
Behavioural brain research 2010;211(1):118-24.
2010: Angela Magariello; Maria Muglia; Alessandra Patitucci; Carmine Ungaro; Rosalucia Mazzei; Anna Lia Gabriele; Teresa Sprovieri; Luigi Citrigno; Francesca Luisa Conforti; Maria Liguori; Antonio Gambardella; Francesco Bono; Tommaso Piccoli; Francesco Patti; Mario Zappia; Michelangelo Mancuso; Franco Iemolo; Aldo Quattrone
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.
Journal of the neurological sciences 2010;288(1-2):96-100.
2009: Carmine Ungaro; Rosalucia Mazzei; Francesca Luisa Conforti; Teresa Sprovieri; P Servillo; Maria Liguori; L Citrigno; Anna Lia Gabriele; Angela Magariello; Alessandra Patitucci; Maria Muglia; Aldo Quattrone
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.
Journal of neuroscience research 2009;87(5):1162-7.
2009: Teresa Sprovieri; Francesca Luisa Conforti; A Fiumara; Rosalucia Mazzei; Carmine Ungaro; L Citrigno; Maria Muglia; A Arena; Aldo Quattrone
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
American journal of medical genetics. Part A 2009;149A(4):722-5.
2009: Paola S Denora; Maria Muglia; Carlo Casali; Jérémy Truchetto; Gabriella Silvestri; Demetrio Messina; Amir Boukrhis; Angela Magariello; Anna Modoni; Marcella Masciullo; Alessandro Malandrini; Maurizio Morelli; Maria Fulvia de Leva; Marcello Villanova; Elisabetta Giugni; Luigi Citrigno; Teresa Rizza; Antonio Federico; Alberto Pierallini; Aldo Quattrone; Alessandro Filla; Alexis Brice; Giovanni Stevanin; Filippo M Santorelli
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Journal of the neurological sciences 2009;277(1-2):22-5.
2009: Francesca Luisa Conforti; Teresa Sprovieri; Rosalucia Mazzei; Alessandra Patitucci; Carmine Ungaro; Stefano Zoccolella; Angela Magariello; Vincenzo La Bella; Alessandro Tessitore; Gioacchino Tedeschi; Isabella Laura Simone; Giovanni Majorana; Paola Valentino; Luigi Citrigno; Anna Lia Gabriele; Francesco Bono; MariaRosaria Monsurrò; Maria Muglia; Aldo Quattrone
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2009;10(1):58-60.
2009: Maria Muglia; Davide Pareyson; Alessandra Patitucci; Aldo Quattrone; Franco Taroni; Giovanni Vazza; Micaela Milani; Maria Luisa Mostacciuolo
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
BMJ case reports 2009;2009():.
2008: Anna Mazzeo; Maria Muglia; Carmelo Rodolico; Antonio Toscano; Alessandra Patitucci; Aldo Quattrone; Corrado Messina; Giuseppe Vita
Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
Acta neurologica Scandinavica 2008;118(5):328-32.
2008: Anna Mazzeo; Rita Di Leo; Antonio Toscano; Maria Muglia; Alessandra Patitucci; Corrado Messina; Giuseppe Vita
Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2008;15(10):1140-2.
2008: Antonio Cerasa; Maria C Gioia; Angelo Labate; Pierluigi Lanza; Angela Magariello; Maria Muglia; Aldo Quattrone
MAO A VNTR polymorphism and variation in human morphology: a VBM study.
Neuroreport 2008;19(11):1107-10.
2008: Maria Muglia; Angela Magariello; L Citrigno; Luca Passamonti; Teresa Sprovieri; Francesca Luisa Conforti; Rosalucia Mazzei; Alessandra Patitucci; Anna Lia Gabriele; Carmine Ungaro; M Bellesi; Aldo Quattrone
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
Clinical genetics 2008;73(5):486-91.
2008: Luca Passamonti; Antonio Cerasa; Maria Cecilia Gioia; Angela Magariello; Maria Muglia; Aldo Quattrone; Francesco Fera
Genetically dependent modulation of serotonergic inactivation in the human prefrontal cortex.
NeuroImage 2008;40(3):1264-73.
2008: Alessandro Malandrini; Simona Gambelli; Maria Muglia; Gianna Berti; Carmen Gaudiano; Alessandra Patitucci; Kazuma Sugie; Fujio Umehara; Aldo Quattrone; Maria Teresa Dotti; Antonio Federico
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
Brain & development 2008;30(4):291-4.
2008: Antonio Cerasa; Maria Cecilia Gioia; Francesco Fera; Luca Passamonti; Maria Liguori; Pierluigi Lanza; Maria Muglia; Angela Magariello; Aldo Quattrone
Ventro-lateral prefrontal activity during working memory is modulated by MAO A genetic variation.
Brain research 2008;1201():114-21.
2008: Rosalucia Mazzei; Donata Guidetti; Carmine Ungaro; Francesca Luisa Conforti; Maria Muglia; G Cenacchi; Pierluigi Lanza; Alessandra Patitucci; Teresa Sprovieri; P Riguzzi; Angela Magariello; Anna Lia Gabriele; L Citrigno; P Preda; Aldo Quattrone
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.
Journal of neurology, neurosurgery, and psychiatry 2008;79(1):108-10.
2008: Francesca Luisa Conforti; Teresa Sprovieri; Rosalucia Mazzei; Carmine Ungaro; Vincenzo La Bella; A Tessitore; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Gioacchino Tedeschi; Isabella Laura Simone; G Majorana; Paola Valentino; Francesca Condino; Francesco Bono; MariaRosaria Monsurrò; Maria Muglia; Aldo Quattrone
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
Neuromuscular disorders : NMD 2008;18(1):68-70.
2007: Maria Muglia; Alessandra Patitucci; Romana Rizzi; Carmine Ungaro; Francesca Luisa Conforti; Anna Lia Gabriele; Angela Magariello; Rosalucia Mazzei; Luisa Motti; Rossella Sabadini; Teresa Sprovieri; Norina Marcello; Aldo Quattrone
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
Journal of the neurological sciences 2007;263(1-2):194-7.
2007: Maria Muglia; Giovanni Vazza; Alessandra Patitucci; M Milani; D Pareyson; Franco Taroni; A Quattrone; Maria Luisa Mostacciuolo
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Journal of neurology, neurosurgery, and psychiatry 2007;78(11):1286-7.
2007: Carmine Ungaro; Teresa Sprovieri; Francesca Luisa Conforti; Maria Muglia; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Aldo Quattrone; Rosalucia Mazzei
Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.
Neuroscience letters 2007;418(1):1-3.
2007: Rosalucia Mazzei; Francesca Luisa Conforti; Carmine Ungaro; Maria Liguori; Teresa Sprovieri; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Maria Muglia; Aldo Quattrone
Gene symbol: NOTCH3.
Human genetics 2007;121(2):296.
2007: Rosalucia Mazzei; Francesca Luisa Conforti; Carmine Ungaro; Maria Liguori; Angela Magariello; Anna Lia Gabriele; Alessandra Patitucci; Teresa Sprovieri; Maria Muglia; Aldo Quattrone
Gene symbol: NOTCH3.
Human genetics 2007;121(2):296.
2007: Rosalucia Mazzei; Francesca Luisa Conforti; Carmine Ungaro; Maria Liguori; Teresa Sprovieri; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Maria Muglia; Aldo Quattrone
Gene symbol: NOTCH3.
Human genetics 2007;121(2):295.
2006: Francesca Luisa Conforti; Rosalucia Mazzei; Teresa Sprovieri; Carmine Ungaro; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Carmela Bravaccio; Maria Muglia; Aldo Quattrone
Gene symbol: MECP2. Disease: Rett syndrome.
Human genetics 2006;119(6):676.
2006: Francesca Luisa Conforti; Rosalucia Mazzei; Alessandra Patitucci; Angela Magariello; Teresa Sprovieri; Carmine Ungaro; Anna Lia Gabriele; Maria Muglia; E Del Giudice; Aldo Quattrone
Gene symbol: MECP2. Disease: Rett syndrome.
Human genetics 2006;119(6):675.
2006: Angela Magariello; Maria Muglia; Alessandra Patitucci; Rosalucia Mazzei; Francesca Luisa Conforti; Anna Lia Gabriele; Teresa Sprovieri; Carmine Ungaro; Antonio Gambardella; Michelangelo Mancuso; Gabriele Siciliano; Damiano Branca; Umberto Aguglia; Maria Vittoria de Angelis; Katia Longo; Aldo Quattrone
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Neuromuscular disorders : NMD 2006;16(6):387-90.
2006: Luca Passamonti; Francesco Fera; Angela Magariello; Antonio Cerasa; Maria Cecilia Gioia; Maria Muglia; Giuseppe Nicoletti; Olivier Gallo; Leandro Provinciali; Aldo Quattrone
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity.
Biological psychiatry 2006;59(4):334-40.
2006: Francesca Luisa Conforti; Teresa Sprovieri; Rosalucia Mazzei; Carmine Ungaro; Alessandro Tessitore; Gioacchino Tedeschi; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Vincenzo Labella; Isabella Laura Simone; Giovanni Majorana; Maria Rosaria Monsurrò; Paola Valentino; Maria Muglia; Aldo Quattrone
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Journal of negative results in biomedicine 2006;5():7.
2005: Carmelo Rodolico; Antonio Toscano; Alessandra Patitucci; Maria Muglia; Michele Gaeta; Graziella D'Arrigo; Alba Migliorato; Sonia Messina; Aldo Quattrone; Corrado Messina; Giuseppe Vita
Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2005;26(5):303-9.
2005: Alessandro Malandrini; Simona Gambelli; Maria Muglia; Gianna Berti; Alessandra Patitucci; Kazuma Sugie; Fujio Umehara; Aldo Quattrone; Maria Teresa Dotti; Antonio Federico
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype.
Neurology 2005;65(5):776.
2005: Alessandra Patitucci; Maria Muglia; Angela Magariello; Anna Lia Gabriele; Giuseppina Peluso; Teresa Sprovieri; Francesca Luisa Conforti; Rosalucia Mazzei; Carmine Ungaro; Francesca Condino; Paola Valentino; Francesco Bono; Carmelo Rodolico; Anna Mazzeo; Antonio Toscano; Giuseppe Vita; Aldo Quattrone
Comparison of different techniques for detecting 17p12 duplication in CMT1A.
Neuromuscular disorders : NMD 2005;15(7):488-92.
2005: Paola Valentino; Francesca Luisa Conforti; Domenico Pirritano; Rita Nisticò; Rosalucia Mazzei; Alessandra Patitucci; Teresa Sprovieri; Anna Lia Gabriele; Maria Muglia; Alessandra Clodomiro; Antonio Gambardella; Mario Zappia; Aldo Quattrone
Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P).
Neurology 2005;64(8):1477-8.
2004: Michelangelo Mancuso; Francesca Luisa Conforti; Anna Rocchi; Alessandro Tessitore; Maria Muglia; Gioacchino Tedeschi; Daniela Panza; MariaRosaria Monsurrò; Patrizia Sola; Jessica Mandrioli; Anna Choub; Alberto DelCorona; Maria Laura Manca; Rosalucia Mazzei; Teresa Sprovieri; Massimiliano Filosto; Alessandro Salviati; Paola Valentino; Francesco Bono; Manuela Caracciolo; Isabella Laura Simone; Vincenzo La Bella; Giovanni Majorana; Gabriele Siciliano; Luigi Murri; Aldo Quattrone
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
Neuroscience letters 2004;371(2-3):158-62.
2004: Luca Passamonti; Maria Muglia; Angela Magariello; Michele Bellesi; Francesca Luisa Conforti; Rosalucia Mazzei; Alessandra Patitucci; Anna Lia Gabriele; Teresa Sprovieri; Giuseppina Peluso; Manuela Caracciolo; Emanuele Medici; Francesco Logullo; Leandro Provinciali; Aldo Quattrone
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
Neuromuscular disorders : NMD 2004;14(11):705-10.
2004: Francesca Luisa Conforti; Maria Muglia; Rosalucia Mazzei; Alessandra Patitucci; Paola Valentino; Angela Magariello; Teresa Sprovieri; Francesco Bono; C Bergmann; Anna Lia Gabriele; Giuseppina Peluso; Rita Nisticò; Jan Senderek; Aldo Quattrone
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
Neurology 2004;63(7):1327-8.
2004: Rosalucia Mazzei; Francesca Luisa Conforti; Pierluigi Lanza; Teresa Sprovieri; MR Lupo; Olivier Gallo; Alessandra Patitucci; Angela Magariello; Manuela Caracciolo; Anna Lia Gabriele; Francesco Fera; Paola Valentino; Francesco Bono; G Cenacchi; G Santoro; Maria Muglia; Aldo Quattrone
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.
Neurology 2004;63(3):561-4.
2004: Stephan Zuchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie M Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg V Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery Vance; Esra Battologlu
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nature genetics 2004;36(5):449-51.
2004: Francesca Luisa Conforti; Angela Magariello; Rosalucia Mazzei; Teresa Sprovieri; Alessandra Patitucci; Lucia Crescibene; Loredana Bastone; AnnaLia Gabriele; Massimo Scornaienchi; Tiziana Ferraro; Maria Muglia; Aldo Quattrone
Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis.
Muscle & nerve 2004;29(4):610-1.
2004: Rosalucia Mazzei; Antonio Gambardella; Francesca Luisa Conforti; Angela Magariello; Alessandra Patitucci; Anna Lia Gabriele; Teresa Sprovieri; Angelo Labate; Paola Valentino; Francesco Bono; Simona Bonavita; Mario Zappia; Maria Muglia; A Quattrone
Gene conversion events in adult-onset spinal muscular atrophy.
Acta neurologica Scandinavica 2004;109(2):151-4.
2004: Maria Muglia; Chiara Criscuolo; Angela Magariello; Giuseppe De Michele; Valentina Scarano; P D'Adamo; G Ambrosio; Anna Lia Gabriele; Alessandra Patitucci; Rosalucia Mazzei; Francesca Luisa Conforti; Teresa Sprovieri; Letterio Morgante; Antonio Epifanio; Paolino La Spina; Paola Valentino; Paolo Gasparini; Alessandro Filla; Aldo Quattrone
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Neurogenetics 2004;5(1):49-54.
2004: Carlo Casali; Enza Maria Valente; Enrico Bertini; G Montagna; Chiara Criscuolo; Giuseppe De Michele; Marcello Villanova; Maria Damiano; Alberto Pierallini; Francesco Brancati; Valentina Scarano; Alessandra Tessa; Federica Cricchi; Gabriella Grieco; Maria Muglia; M Carella; B Martini; A Rossi; Giuseppe Amabile; Giuseppe Nappi; Alessandro Filla; Bruno Dallapiccola; Filippo M Santorelli
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Neurology 2004;62(2):262-8.
2003: Rosalucia Mazzei; Francesca Luisa Conforti; Maria Muglia; Teresa Sprovieri; Alessandra Patitucci; Angela Magariello; Anna Lia Gabriele; Aldo Quattrone
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.
Journal of child neurology 2003;18(4):269-71.
2003: Francesca Luisa Conforti; Rosalucia Mazzei; Angela Magariello; Alessandra Patitucci; Anna Lia Gabriele; Maria Muglia; Aldo Quattrone; Agata Fiumara; Rita Barone; Lorenzo Pavone; Rita Nisticò; Loredana Mangone
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
American journal of medical genetics. Part A 2003;117A(2):184-7.
2002: Maria Muglia; Angela Magariello; Giuseppe Nicoletti; Alessandra Patitucci; Anna Lia Gabriele; Francesca Luisa Conforti; Rosalucia Mazzei; Manuela Caracciolo; Giorgio Casari; Bonaventura Ardito; Marcello Lastilla; Antonio Gambardella; Aldo Quattrone
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
Journal of neurology 2002;249(10):1413-6.
2002: Rosalucia Mazzei; Francesca Luisa Conforti; Angela Magariello; Carmela Bravaccio; Roberto Militerni; Anna Lia Gabriele; Simone Sampaolo; Alessandra Patitucci; Giuseppe Di Iorio; Maria Muglia; Aldo Quattrone
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.
Journal of neurology 2002;249(10):1398-400.
2002: Maria Muglia; Angela Magariello; Giuseppe Nicoletti; Alessandra Patitucci; Anna Lia Gabriele; Francesca Luisa Conforti; Rosalucia Mazzei; Manuela Caracciolo; Bonaventura Ardito; Marcello Lastilla; Gioacchino Tedeschi; Aldo Quattrone
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
Annals of neurology 2002;51(6):794-5.
2001: RL Oliveri; Maria Muglia; N De Stefano; Rosalucia Mazzei; Angelo Labate; Francesca Luisa Conforti; Alessandra Patitucci; Anna Lia Gabriele; G Tagarelli; Angela Magariello; Mario Zappia; Antonio Gambardella; A Federico; Aldo Quattrone
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
Archives of neurology 2001;58(9):1418-22.
2001: Antonio Gambardella; Maria Muglia; Angelo Labate; Angela Magariello; Anna Lia Gabriele; Rosalucia Mazzei; Domenico Pirritano; Francesca Luisa Conforti; Alessandra Patitucci; Paola Valentino; Mario Zappia; Aldo Quattrone
Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.
Neurology 2001;57(4):708-11.
2001: Maria Muglia; Mario Zappia; V Timmerman; Paola Valentino; Anna Lia Gabriele; Francesca Luisa Conforti; P De Jonghe; M Ragno; Rosalucia Mazzei; M Sabatelli; Giuseppe Nicoletti; Alessandra Patitucci; RL Oliveri; Francesco Bono; A Gambardella; Aldo Quattrone
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
Neurology 2001;56(1):100-3.
2000: Alessandra Bolino; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; Angelo Schenone; A Gambardella; Francesco Bono; A Quattrone; Marcella Devoto; Anthony P Monaco
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Nature genetics 2000;25(1):17-9.
2000: Maria Muglia; A Toscano; Anna Lia Gabriele; Angela Magariello; Alessandra Patitucci; Francesca Luisa Conforti; Rosalucia Mazzei; Carmelo Rodolico; A Gambardella; Aldo Quattrone
Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.
Human mutation 2000;15(3):299.
2000: Alessandra Bolino; ER Levy; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; A Gambardella; A Quattrone; Marcella Devoto; Anthony P Monaco
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
Genomics 2000;63(2):271-8.
1999: A Gambardella; Francesco Bono; Maria Muglia; Paola Valentino; A Quattrone
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
Annals of the New York Academy of Sciences 1999;883():47-55.
1998: A Gambardella; Alessandra Bolino; Maria Muglia; Paola Valentino; Francesco Bono; RL Oliveri; M Sabatelli; V Brancolini; Christine Van Broeckhoven; Giovanni Romeo; Marcella Devoto; A Quattrone
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
Neurology 1998;50(3):799-801.
1997: O Leone; Maria Muglia; AL Gabriele; Grazia Annesi; Francesca Luisa Conforti; E Imbrogno; L Imbrogno; Carlo Brancati
Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy).
Human biology 1997;69(5):653-62.
1997: Antonio Qualtieri; Virginia Andreoli; Lucia Crescibene; Elvira V De Marco; Maria Muglia; AL Gabriele; Grazia Annesi; Carlo Brancati
Hb Valletta [beta 87(F3)Thr-->Pro] due to an A-->C substitution at codon 87 in a Calabrian family with alpha-thalassemia.
Hemoglobin 1997;21(1):97-103.
1997: Grazia Annesi; Maria Muglia; Francesca Luisa Conforti; O Leone; C Grandinetti; E Imbrogno; AL Gabriele; Francesco Naso; Carlo Brancati
A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene.
Human heredity 1997;47(1):47-51.
1996: Maria Muglia; O Leone; Grazia Annesi; A L Gabriele; E Imbrogno; C Grandinetti; Francesca Luisa Conforti; F Naso; Carlo Brancati
Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease.
Clinical chemistry 1996;42(10):1601-3.
1993: Maria Muglia; Grazia Annesi; A L Gabriele; M Covello; Carlo Brancati
Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure).
Hemoglobin 1993;17(3):285-7.
1990: G Pepe; Maria Muglia; Carlo Brancati; Guido Modiano
Studies on four restriction fragment length polymorphisms of the type I collagen genes in two Italian populations.
Human heredity 1990;40(6):368-80.