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51

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene

Ruggiero, Lucia, Fiorillo, Chiara, Tessa, Alessandra, Manganelli, Fiore, Iodice, Rosa, Dubbioso, Raffaele, Vitale, Floriana, Storti, Eugenia, Soscia, Ernesto, Santorelli, Filippo, Santoro, Lucio

Journal:

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

52

Muscle magnetic resonance imaging and histopathology in ACTA1- related congenital nemaline myopathy

Castiglioni, Claudia, Cassandrini, Denis, Fattori, Fabiana, Bellacchio, Emanuele, D'Amico, Adele, Alvarez, Karin, Gejman, Roger, Diaz, Jorge, Santorelli, Filippo M., Romero, Norma B., Bertini, Enrico,

Journal:

Year:

2014

Language:

english

File:

PDF, 3.61 MB

english, 2014

53

Tests of covered interest parity on the Euromarket with high-quality data

Committeri, Marco, Rossi, Salvatore, Santorelli, Andrea

Journal:

Applied Financial Economics

Year:

1993

Language:

english

File:

PDF, 405 KB

english, 1993

54

[IEEE 2016 17th International Symposium on Antenna Technology and Applied Electromagnetics (ANTEM) - Montreal, QC, Canada (2016.7.10-2016.7.13)] 2016 17th International Symposium on Antenna Technology and Applied Electromagnetics (ANTEM) - A miniaturized clock generator for a time-domain microwave breast health monitoring device

Hallaoui, Karim El, Santorelli, Adam, Popovic, Milica, Coates, Mark

Year:

2016

Language:

english

File:

PDF, 350 KB

english, 2016

55

Development and characterization of a multi-APD xenon electroluminescence TPC

Lux, T., Soto, A. Garcia, Ballester, O., Bordoni, S., Gil-Botella, I., Hamer, N., Illa, J., Mañas, G. Jover, Martín-Marí, C., Palomares, C., Rico, J., Sanchez, F., Santorelli, R., Verdugo, A.

Journal:

Journal of Instrumentation

Year:

2015

Language:

english

File:

PDF, 4.96 MB

english, 2015

56

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype

Iapadre, Giulia, Morana, Giovanni, Vari, Maria Stella, Pinto, Francesca, Lanteri, Paola, Tessa, Alessandra, Santorelli, Filippo Maria, Striano, Pasquale, Verrotti, Alberto

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 1009 KB

english, 2018

57

Most species are not limited by an Amazonian river postulated to be a border between endemism areas

Santorelli, Sergio, Magnusson, William E., Deus, Claudia P.

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 2.39 MB

english, 2018

58

Factors Affecting the Acceptability of Social Robots by Older Adults Including People with Dementia or Cognitive Impairment: A Literature Review

Whelan, Sally, Murphy, Kathy, Barrett, Eva, Krusche, Cheryl, Santorelli, Adam, Casey, Dympna

Journal:

International Journal of Social Robotics

Year:

2018

Language:

english

File:

PDF, 576 KB

english, 2018

59

Supervised Learning Classifiers for Electrical Impedance-based Bladder State Detection

Dunne, Eoghan, Santorelli, Adam, McGinley, Brian, Leader, Geraldine, O’Halloran, Martin, Porter, Emily

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.81 MB

english, 2018

60

Older and younger adults differently judge the similarity between negative affect terms

Ready, Rebecca E., Santorelli, Gennarina D., Mather, Molly A.

Journal:

Aging & Mental Health

Year:

2018

Language:

english

File:

PDF, 440 KB

english, 2018

61

Impact of the positive ion current on large size neutrino detectors and delayed photon emission

Santorelli, R., di Luise, S., Garcia, E. Sanchez, Abia, P. Garcia, Lux, T., Pesudo, V., Romero, L.

Journal:

Journal of Instrumentation

Year:

2018

Language:

english

File:

PDF, 443 KB

english, 2018

62

Universal Behaviors as Candidate Traditions in Wild Spider Monkeys

Santorelli, Claire J., Schaffner, Colleen M., Aureli, Filippo, Santos, Laurie

Journal:

Year:

2011

Language:

english

File:

PDF, 103 KB

english, 2011

63

A new, sensitive and versatile assay for quantitative determination of α-fluoro-β-alanine (AFBA) in human urine by using the reversed-phase ultrahigh performance-tandem mass spectrometry (rp-UHPLC-MS/MS) system

Sottani, Cristina, Grignani, Elena, Zaratin, Laura, Santorelli, Donatella, Studioso, Emanuele, Lonati, Davide, Locatelli, Carlo A., Pastoris, Ornella, Negri, Sara, Cottica, Danilo

Journal:

Toxicology Letters

Year:

2018

Language:

english

File:

PDF, 494 KB

english, 2018

64

Investigation of Anemia and the Dielectric Properties of Human Blood at Microwave Frequencies

Santorelli, Adam, Abbasi, Benazir, Lyons, Mark, Hayat, Amjad, Gupta, Sanjeev, O'Halloran, Martin, Gupta, Ananya

Journal:

Year:

2018

Language:

english

File:

PDF, 6.35 MB

english, 2018

65

A noble gas detector with electroluminescence readout based on an array of APDs

Bourguille, B., Soto, A. Garcia, Gil-Botella, I., Lux, T., Palomares, C., Sanchez, F., Santorelli, R.

Journal:

Journal of Instrumentation

Year:

2015

Language:

english

File:

PDF, 6.75 MB

english, 2015

66

SCN11A variant as possible pain generator in sensory axonal neuropathy

Ginanneschi, Federica, Rubegni, Anna, Moro, Francesca, Volpi, Nila, Santorelli, Filippo Maria, Rossi, Alessandro

Journal:

Neurological Sciences

Year:

2019

Language:

english

File:

PDF, 655 KB

english, 2019

67

Building an ark: creating a vessel for the education of MBSR teachers

Santorelli, Saki F

Journal:

Current Opinion in Psychology

Year:

2019

File:

PDF, 170 KB

2019

68

Degenerative and acquired sporadic adult onset ataxia

Lieto, Maria, Roca, Alessandro, Santorelli, Filippo Maria, Fico, Tommasina, De Michele, Giovanna, Bellofatto, Marta, Saccà, Francesco, De Michele, Giuseppe, Filla, Alessandro

Journal:

Neurological Sciences

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

69

Building an ark: creating a vessel for the education of MBSR teachers

Santorelli, Saki F

Journal:

Current Opinion in Psychology

Year:

2019

Language:

english

File:

PDF, 170 KB

english, 2019

70

Intrafamilial “DOA‐plus” phenotype variability related to different OMI/HTRA2 expression

Napolitano, Filomena, Terracciano, Chiara, Bruno, Giorgia, Nesti, Claudia, Barillari, Maria R., Barillari, Umberto, Santorelli, Filippo M., Melone, Mariarosa A.B., Esposito, Teresa, Sampaolo, Simone

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.86 MB

english, 2019

71

Non-surgical Rhinoplasty with Hyaluronic acid Fillers: Predictable Results Using Software for the Evaluation of Nasal Angles

Santorelli, Adriano, Marlino, Sergio

Journal:

Aesthetic Plastic Surgery

Year:

2019

File:

PDF, 1.20 MB

2019

72

In-Depth Mapping of the Urinary N-Glycoproteome: Distinct Signatures of ccRCC-related Progression

Santorelli, Lucia, Capitoli, Giulia, Chinello, Clizia, Piga, Isabella, Clerici, Francesca, Denti, Vanna, Smith, Andrew, Grasso, Angelica, Raimondo, Francesca, Grasso, Marco, Magni, Fulvio

Journal:

Year:

2020

Language:

english

File:

PDF, 1.59 MB

english, 2020

73

-decay with Geant4

Mendoza, E., Cano-Ott, D., Romojaro, P., Alcayne, V., GarcÃa Abia, P., Pesudo, V., Romero, L., Santorelli, R.

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2020

Language:

english

File:

PDF, 864 KB

english, 2020

74

[BMJ Publishing Group Ltd Society for Social Medicine, 61st Annual Scientific Meeting, University of Manchester, 5â8 September 2017 - ()] SSM annual scientific meeting 2017 - P94âAssociations between maternal pregnancy, social and lifestyle characteristics and offspring blood pressure at age 4/5 in white british and pakistani origin participants in the born in bradford study

West, J, Santorelli, G, Collings, P, Wright, J, Lawlor, D

File:

PDF, 59 KB

75

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

Calderoni, Sara, Ricca, Ivana, Balboni, Giulia, Cagiano, Romina, Cassandrini, Denise, Doccini, Stefano, Cosenza, Angela, Tolomeo, Deborah, Tancredi, Raffaella, Santorelli, Filippo Maria, Muratori, Fil

Journal:

Journal of Personalized Medicine

Year:

2020

File:

PDF, 622 KB

2020

76

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

Patrono, C., Rizzo, C., Tessa, A., Giannotti, A., Borrelli, P., Carrozzo, R., Piemonte, F., Bertini, E., Dionisi-Vici, C., Santorelli, F.M.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

77

X-linked congenital ataxia: A clinical and genetic study

Bertini, Enrico, des Portes, Vincent, Zanni, Ginevra, Santorelli, Filippo, Dionisi-Vici, Carlo, Vicari, Stefano, Fariello, Giuseppe, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 145 KB

english, 2000

78

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children

A. Tessa, A. Simonati, A. Tavoni, E. Bertini, F.M. Santorelli

Journal:

Year:

2000

Language:

english

File:

PDF, 81 KB

english, 2000

79

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

Aldo Giannotti, Alessandra Tessa, Clarice Patrono, Lucia De Florio, Margherita Velardo, Carlo Dionisi-Vici, Enrico Bertini, Filippo M. Santorelli

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

80

Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders

Alessandro Serretti, Silvano Cristina, Roberta Lilli, Cristina Cusin, Enrico Lattuada, Cristina Lorenzi, Barbara Corradi, Gaetano Grieco, Alfredo Costa, Filippo Santorelli, Francesco Barale, Giuseppe

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 97 KB

english, 2002

81

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)

Gregory M. Pastores, Filippo M. Santorelli, Sara Shanske, Bruce D. Gelb, Billie Fyfe, David Wolfe, Judith P. Willner

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 696 KB

english, 1994

82

Methylmalonic and propionic aciduria

Federica Deodato, Sara Boenzi, Filippo M. Santorelli, Carlo Dionisi-Vici

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2006

Language:

english

File:

PDF, 227 KB

english, 2006

83

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

Rosalba Carrozzo, Ilka Wittig, Filippo M. Santorelli, Enrico Bertini, Sabine Hofmann, Ulrich Brandt, Hermann Schägger

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 1.03 MB

english, 2006

84

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Filippo M. Santorelli, Sara Shanske, Alfons Macaya, Darryl C. DeVivo, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 729 KB

english, 1993

85

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients

F. M. Santorelli, M. Sciacco, K. Tanji, S. Shanske, T. H. Vu, V. Golzi, R. C. Griggs, J. R. Mendell, A. P. Hays, T. E. Bertorini, A. Pestronk, E. Bonilla, Dr S. Dimauro

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 795 KB

english, 1996

86

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene

F. M. Santorelli, K. Tanji, M. Sano, S. Shanske, M. El-Shahawi, P. Kranz-Eble, S. Dimauro, D. C. De Vivo

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 585 KB

english, 1997

87

The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past

F. M. Santorelli, K. Tanji, S. Shanske, S. Krishna, R. E. Schmidt, R. S. Greenwood, S. DiMauro, Dr. D. C. de Vivo

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 304 KB

english, 1998

88

ChemInform Abstract: Synthesis and Antibacterial Activity of O-Methyl Derivatives of Azalide Antibiotics: Part 1. 4′′-, 11-, and 12-OMe Derivatives via Direct Methylation.

S. T. WADDELL, G. M. SANTORELLI, T. A. BLIZZARD, A. GRAHAM, J. OCCI

Journal:

Year:

1998

File:

PDF, 36 KB

1998

89

ChemInform Abstract: Synthesis and Antibacterial Activity of O-Methyl Derivatives of Azalide Antibiotics. Part 2. 6-OMe Derivatives via Clarithromycin.

S. T. WADDELL, G. M. SANTORELLI, T. A. BLIZZARD, A. GRAHAM, J. OCCI

Journal:

Year:

1998

File:

PDF, 30 KB

1998

90

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

Ilka Wittig, Rosalba Carrozzo, Filippo M. Santorelli, Hermann Schägger

Journal:

ELECTROPHORESIS

Year:

2007

Language:

english

File:

PDF, 547 KB

english, 2007

91

A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

G. Silvestri, F. M. Santorelli, S. Shanske, C. B. Whitley, L. A. Schimmenti, S. A. Smith, S. DiMauro

Journal:

Year:

1994

Language:

english

File:

PDF, 897 KB

english, 1994

92

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

A. Tessa, I. Carbone, M.C. Matteoli, C. Bruno, C. Patrono, I.P. Patera, F. De Luca, R. Lorini, F.M. Santorelli

Journal:

Year:

2001

Language:

english

File:

PDF, 55 KB

english, 2001

93

Mutation analysis in 16 patients with mtDNA depletion

R. Carrozzo, B. Bornstein, S. Lucioli, Y. Campos, P. de la Pena, N. Petit, C. Dionisi-Vici, L. Vilarinho, T. Rizza, E. Bertini, R. Garesse, F.M. Santorelli, J. Arenas

Journal:

Year:

2003

Language:

english

File:

PDF, 224 KB

english, 2003

94

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

D. P. Dimmock, Q. Zhang, C. Dionisi-Vici, R. Carrozzo, J. Shieh, L-Y Tang, C. Truong, E. Schmitt, M. Sifry-Platt, S. Lucioli, F.M. Santorelli, C.H. Ficicioglu, M. Rodriguez, K. Wierenga, G.M. Enns, N.

Journal:

Year:

2008

Language:

english

File:

PDF, 469 KB

english, 2008

95

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene

Martha Elisa Vazquez-Memije, Teresa Rizza, Maria Chiara Meschini, Claudia Nesti, Filippo Maria Santorelli, Rosalba Carrozzo

Journal:

Journal of Cellular Biochemistry

Year:

2009

Language:

english

File:

PDF, 445 KB

english, 2009

96

Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals

Marco Sparaco, Laura Maria Gaeta, Giulia Tozzi, Enrico Bertini, Anna Pastore, Alessandro Simonati, Filippo Maria Santorelli, Fiorella Piemonte

Journal:

Journal of Neuroscience Research

Year:

2006

Language:

english

File:

PDF, 787 KB

english, 2006

97

A comparison of the Corrosion behaviour of FeCrAlloy and MA 956 in simulated coal gasification atmospheres

R. L. Santorelli, J. F. Norton, F. Bregani

Journal:

Materials and Corrosion/Werkstoffe und Korrosion

Year:

1990

Language:

english

File:

PDF, 1.13 MB

english, 1990

98

Identification of a de novo mutation in SPG11

Paola S. Denora, Knut Brockmann, Marianna Ciccolella, Jeremy Truchetto, Giovanni Stevanin, Filippo M. Santorelli

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

99

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

Arianna Guidubaldi, Carla Piano, Filippo M. Santorelli, Gabriella Silvestri, Martina Petracca, Alessandra Tessa, Anna Rita Bentivoglio

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 355 KB

english, 2011

100

Mild preparation of cephalosporin allyl and p-methoxybenzyl esters using diazoalkanes

Sherman T. Waddell, Gina M. Santorelli

Journal:

Tetrahedron Letters

Year:

1996

Language:

english

File:

PDF, 210 KB

english, 1996