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Luigi Citrigno
Luigi Citrigno
Institute for Biomedical Research and Innovation, National Research Council (CNR), Mangone, CS
Bestätigte E-Mail-Adresse bei irib.cnr.it
Titel
Zitiert von
Zitiert von
Jahr
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia
DS McCorquodale III, U Ozomaro, J Huang, G Montenegro, A Kushman, ...
Clinical genetics 79 (6), 523-530, 2011
472011
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis
W Sproviero, V La Bella, R Mazzei, P Valentino, C Rodolico, IL Simone, ...
Neurobiology of aging 33 (4), 837. e1-837. e5, 2012
452012
High-throughput sequencing of two populations of extracellular vesicles provides an mRNA signature that can be detected in the circulation of breast cancer patients
A Conley, VR Minciacchi, DH Lee, BS Knudsen, BY Karlan, L Citrigno, ...
RNA biology 14 (3), 305-316, 2017
392017
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene
C Ungaro, R Mazzei, FL Conforti, T Sprovieri, P Servillo, M Liguori, ...
Journal of neuroscience research 87 (5), 1162-1167, 2009
362009
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, R Mazzei, AL Gabriele, ...
Journal of the neurological sciences 288 (1-2), 96-100, 2010
322010
A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype
T Sprovieri, FL Conforti, A Fiumara, R Mazzei, C Ungaro, L Citrigno, ...
American Journal of Medical Genetics Part A 149 (4), 722-725, 2009
272009
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
FL Conforti, W Sproviero, IL Simone, R Mazzei, P Valentino, C Ungaro, ...
Journal of Neurology, Neurosurgery & Psychiatry 82 (5), 587-588, 2011
252011
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
PS Denora, M Muglia, C Casali, J Truchetto, G Silvestri, D Messina, ...
Journal of the neurological sciences 277 (1-2), 22-25, 2009
212009
The mitochondrial dysfunction hypothesis in autism spectrum disorders: current status and future perspectives
L Citrigno, M Muglia, A Qualtieri, P Spadafora, F Cavalcanti, G Pioggia, ...
International journal of molecular sciences 21 (16), 5785, 2020
182020
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
R Mazzei, D Guidetti, C Ungaro, FL Conforti, M Muglia, G Cenacchi, ...
Journal of Neurology, Neurosurgery & Psychiatry 79 (1), 108-110, 2008
182008
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum
A Magariello, L Citrigno, S Zuchner, M Gonzalez, A Patitucci, V Sofia, ...
European journal of neurology 21 (3), e25-e26, 2014
142014
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
F Luisa Conforti, T Sprovieri, R Mazzei, A Patitucci, C Ungaro, ...
Amyotrophic Lateral Sclerosis 10 (1), 58-60, 2009
132009
A novel locus for dHMN with pyramidal features maps to chromosome 4q34. 3‐q35. 2
M Muglia, A Magariello, L Citrigno, L Passamonti, T Sprovieri, FL Conforti, ...
Clinical genetics 73 (5), 486-491, 2008
132008
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness
M Muglia, L Citrigno, E D'Errico, A Magariello, E Distaso, AA Gasparro, ...
Journal of the neurological sciences 343 (1-2), 218-220, 2014
122014
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
AL Gabriele, M Ruggieri, A Patitucci, A Magariello, FL Conforti, R Mazzei, ...
Child's Nervous System 27 (4), 635-638, 2011
112011
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, A Patitucci, R Mazzei, ...
Journal of the neurological sciences 372, 347-349, 2017
82017
Autosomal dominant lateral temporal epilepsy (ADLTE): absence of chromosomal rearrangements in LGI1 gene
I Manna, L Mumoli, A Labate, L Citrigno, E Ferlazzo, U Aguglia, ...
Epilepsy research 108 (3), 597-599, 2014
82014
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
T Sprovieri, C Ungaro, S Sivo, M Quintiliani, I Contaldo, C Veredice, ...
BMC Medical Genetics 20 (1), 1-5, 2019
52019
The p. Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia
A Magariello, C Tortorella, L Citrigno, A Patitucci, R Tortelli, R Mazzei, ...
Muscle & nerve 45 (6), 919-920, 2012
52012
Gene symbol: NOTCH3. Disease: CADASIL
C Ungaro, T Sprovieri, FL Conforti, D Consoli, L Citrigno, M Liguori, ...
Human genetics 123 (5), 554, 2008
52008
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