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M. Muglia · SciRah

Researcher profile · Semantic Scholar

M. Muglia

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M. Muglia — researcher profile on SciRah

h-index: 29
Works: 144
Citations: 3,238

Most-cited papers

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S. Züchner, Irina V. Mersiyanova, M. Muglia, N. Bissar-Tadmouri +18 more
2004Nature Genetics580 citations
Semantic Scholar
Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity.
L. Passamonti, F. Fera, A. Magariello, A. Cerasa +6 more
2006Biological Psychiatry161 citations
Semantic Scholar
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
M. Muglia, C. Criscuolo, A. Magariello, G. de Michele +15 more
2004Neurogenetics109 citations
Semantic Scholar
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
E. Gregianin, G. Pallafacchina, S. Zanin, V. Crippa +15 more
2016Human Molecular Genetics97 citations Open access
Semantic Scholar
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
F. Conforti, R. Spataro, W. Sproviero, R. Mazzei +14 more
2012Neurology85 citations Open access
Semantic Scholar
The effect of entacapone on homocysteine levels in Parkinson disease
P. Valentino, F. Conforti, D. Pirritano, R. Nisticò +9 more
2005Neurology79 citations
Semantic Scholar
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
M. Mancuso, F. Conforti, A. Rocchi, A. Tessitore +22 more
2004Neuroscience Letters73 citations Open access
Semantic Scholar
Size and density of osteocyte lacunae in different regions of long bones
V. Canè, G. Marotti, G. Volpi, D. Zaffe +3 more
2006Calcified Tissue International63 citations Open access
Semantic Scholar
Genetically dependent modulation of serotonergic inactivation in the human prefrontal cortex
L. Passamonti, A. Cerasa, M. C. Gioia, A. Magariello +3 more
2008NeuroImage61 citations
Semantic Scholar
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
F. Conforti, T. Sprovieri, R. Mazzei, C. Ungaro +14 more
2008Neuromuscular Disorders61 citations
Semantic Scholar
The gender effect in juvenile Huntington disease patients of Italian origin
M. Cannella, C. Gellera, V. Maglione, P. Giallonardo +6 more
2004American Journal of Medical Genetics Part B: Neuropsychiatric Genetics61 citations
Semantic Scholar
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
R. Mazzei, F. Conforti, P. Lanza, T. Sprovieri +13 more
2004Neurology47 citations
Semantic Scholar
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives
L. Citrigno, M. Muglia, A. Qualtieri, P. Spadafora +3 more
2020International Journal of Molecular Sciences44 citations Open access
Semantic Scholar
Ventro-lateral prefrontal activity during working memory is modulated by MAO A genetic variation.
A. Cerasa, M. C. Gioia, F. Fera, L. Passamonti +5 more
2008Brain Research43 citations
Semantic Scholar
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
W. Sproviero, V. La Bella, R. Mazzei, P. Valentino +16 more
2012Neurobiology of Aging42 citations Open access
Semantic Scholar
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
F. Conforti, W. Sproviero, I. L. Simone, R. Mazzei +14 more
2010Journal of Neurology Neurosurgery & Psychiatry38 citations
Semantic Scholar
5-HTTLPR, anxiety and gender interaction moderates right amygdala volume in healthy subjects.
A. Cerasa, A. Quattrone, Fabrizio Piras, G. Mangone +6 more
2014Social Cognitive and Affective Neuroscience34 citations Open access
Semantic Scholar
SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION
F. Boaretto, Andrea Vettori, A. Casarín, G. Vazza +8 more
2010Neurology33 citations
Semantic Scholar
CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene
C. Ungaro, R. Mazzei, F. Conforti, T. Sprovieri +8 more
2009Journal of Neuroscience Research31 citations
Semantic Scholar
Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement.
A. Cerasa, A. Cherubini, A. Quattrone, M. C. Gioia +6 more
2010Behavioural Brain Research30 citations
Semantic Scholar
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.
A. Magariello, M. Muglia, A. Patitucci, C. Ungaro +14 more
2010Journal of Neurological Sciences30 citations
Semantic Scholar
A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype
T. Sprovieri, F. Conforti, A. Fiumara, R. Mazzei +5 more
2009American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
MAO A VNTR polymorphism and variation in human morphology: a VBM study
A. Cerasa, M. C. Gioia, A. Labate, P. Lanza +3 more
2008NeuroReport26 citations
Semantic Scholar
Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease
G. Bergamin, F. Boaretto, C. Briani, E. Pegoraro +6 more
2014Neuromolecular medicine25 citations Open access
Semantic Scholar
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
F. Conforti, T. Sprovieri, R. Mazzei, C. Ungaro +12 more
2006Journal of Negative Results in Biomedicine25 citations Open access
Semantic Scholar
Brain‐derived neurotrophic factor and risk for primary adult‐onset cranial‐cervical dystonia
D. Martino, M. Muglia, G. Abbruzzese, A. Berardelli +8 more
2009European Journal of Neurology23 citations
Semantic Scholar
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
M. Muglia, A. Patitucci, R. Rizzi, C. Ungaro +9 more
2007Journal of Neurological Sciences23 citations
Semantic Scholar
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum
A. Magariello, L. Citrigno, S. Züchner, M. González +8 more
2014European Journal of Neurology20 citations
Semantic Scholar
MAO A VNTR polymorphism and amygdala volume in healthy subjects.
A. Cerasa, A. Quattrone, M. C. Gioia, A. Magariello +6 more
2011Psychiatry Research20 citations Open access
Semantic Scholar
Charcot‐Marie‐Tooth type X: unusual phenotype of a novel CX32 mutation
A. Mazzeo, R. di Leo, Antonio Toscano, M. Muglia +3 more
2008European Journal of Neurology20 citations
Semantic Scholar
Charcot‐Marie‐Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families
A. Mazzeo, M. Muglia, C. Rodolico, A. Toscano +4 more
2008Acta Neurologica Scandinavica20 citations
Semantic Scholar
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
P. Denora, M. Muglia, C. Casali, J. Truchetto +20 more
2009Journal of Neurological Sciences19 citations
Semantic Scholar
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)
F. Conforti, M. Muglia, R. Mazzei, A. Patitucci +10 more
2004Neurology19 citations
Semantic Scholar
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia
A. Magariello, Carla Tortorella, L. Citrigno, A. Patitucci +7 more
2012Muscle and Nerve18 citations
Semantic Scholar
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
A. Magariello, M. Muglia, A. Patitucci, R. Mazzei +12 more
2006Neuromuscular Disorders17 citations
Semantic Scholar
Gene conversion events in adult‐onset spinal muscular atrophy
R. Mazzei, A. Gambardella, F. Conforti, A. Magariello +10 more
2004Acta Neurologica Scandinavica16 citations
Semantic Scholar
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3‐q35.2
M. Muglia, A. Magariello, L. Citrigno, Luca Passamonti +8 more
2008Clinical Genetics14 citations
Semantic Scholar
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
R. Mazzei, D. Guidetti, C. Ungaro, F. Conforti +11 more
2007Journal of Neurology Neurosurgery & Psychiatry14 citations
Semantic Scholar
Gene symbol: NOTCH3.
R. Mazzei, F. Conforti, C. Ungaro, M. Liguori +6 more
2007Human Genetics14 citations
Semantic Scholar
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
Francesca Luisa Conforti, T. Sprovieri, R. Mazzei, A. Patitucci +15 more
2009Amyotrophic Lateral Sclerosis13 citations Open access
Semantic Scholar
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.
A. Magariello, C. Russo, L. Citrigno, S. Züchner +6 more
2017Journal of Neurological Sciences10 citations
Semantic Scholar
A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy
M. Muglia, G. Vazza, A. Patitucci, M. Milani +4 more
2009BMJ Case Reports10 citations Open access
Semantic Scholar
Comparison of different techniques for detecting 17p12 duplication in CMT1A.
A. Patitucci, M. Muglia, A. Magariello, A. Gabriele +13 more
2005Neuromuscular Disorders10 citations
Semantic Scholar
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.
M. Muglia, L. Citrigno, E. D'Errico, A. Magariello +9 more
2014Journal of Neurological Sciences9 citations
Semantic Scholar
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype
A. Malandrini, S. Gambelli, M. Muglia, G. Berti +6 more
2005Neurology8 citations
Semantic Scholar
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
T. Sprovieri, C. Ungaro, S. Sivo, Michela Quintiliani +8 more
2019BMC Medical Genetics7 citations Open access
Semantic Scholar
Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S. Züchner, Irina V. Mersiyanova, M. Muglia, N. Bissar-Tadmouri +18 more
2004Nature Genetics7 citations Open access
Semantic Scholar
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
A. Gabriele, M. Ruggieri, A. Patitucci, A. Magariello +9 more
2011Child's Nervous System6 citations
Semantic Scholar
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis.
A. Malandrini, S. Gambelli, M. Muglia, G. Berti +7 more
2008Brain & development (Tokyo. 1979)5 citations
Semantic Scholar
ALS and CHARGE syndrome: a clinical and genetic study
C. Ungaro, L. Citrigno, F. Trojsi, T. Sprovieri +6 more
2018Acta Neurologica Belgica4 citations Open access
Semantic Scholar

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