Simonati, A.: search on Z-Library

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1

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease

Moro, Francesca, Gismondi, Floriana, Pezzini, Francesco, Santorelli, Filippo M., Simonati, Alessandro

Journal:

Neurological Sciences

Year:

2014

Language:

english

File:

PDF, 264 KB

english, 2014

2

Clinical and pathological correlations in charcot–marie–tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases

Gian Maria Fabrizi, Alessandro Simonati, Michela Morbin, Tiziana Cavallaro, Federica Taioli, Maria Donata Benedetti, Paolo Edomi, Nicolo' Rizzuto

Journal:

Year:

1998

Language:

english

File:

PDF, 566 KB

english, 1998

3

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

Fabrizi, G. M., Cavallaro, T., Taioli, F., Orrico, D., Morbin, M., Simonati, A., Rizzuto, N.

Journal:

Year:

1999

Language:

english

File:

PDF, 1.61 MB

english, 1999

4

Molecular Genetic Analysis of thePLP1Gene in 38 Families withPLP1-related disorders: Identification and Functional Characterization of 11 NovelPLP1Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Mar

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 454 KB

english, 2011

5

Involvement of the mitochondrial compartment in human NCL fibroblasts

Francesco Pezzini, Floriana Gismondi, Alessandra Tessa, Paola Tonin, Rosalba Carrozzo, Sara E. Mole, Filippo M. Santorelli, Alessandro Simonati

Journal:

Biochemical and Biophysical Research Communications

Year:

2011

Language:

english

File:

PDF, 816 KB

english, 2011

6

Changes in terminal sprout formation in rat sternocostalis muscle during chronic intoxication with 2,5 hexanedione

Dr. Alessandro Simonati, Dr. John B. Cavanagh

Journal:

Year:

1984

Language:

english

File:

PDF, 716 KB

english, 1984

7

Gendered Citizenship in Italian Administrative Law: A Work in Progress Toward a New Public Ethics

Journal:

Public Integrity

Year:

2016

Language:

english

File:

PDF, 372 KB

english, 2016

8

MELAS: clinical phenotype and morphological brain abnormalities

M. Sparaco, A. Simonati, T. Cavallaro, L. Bartolomei, M. Grauso, F. Piscioli, L. Morelli, N. Rizzuto

Journal:

Acta Neuropathologica

Year:

2003

Language:

english

File:

PDF, 1.09 MB

english, 2003

9

Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain ofMPZ/P0

Alessandro Simonati, Gian Maria Fabrizi, Federica Taioli, Alberto Polo, Roberto Cerini, Nicolò Rizzuto

Journal:

Journal of Neurology

Year:

2002

Language:

english

File:

PDF, 381 KB

english, 2002

10

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients withGLIALCAMmutations

Arnedo, Tanit, Aiello, Chiara, Jeworutzki, Elena, Dentici, Maria Lisa, Uziel, Graziella, Simonati, Alessandro, Pusch, Michael, Bertini, Enrico, Estévez, Raúl

Journal:

Year:

2014

Language:

english

File:

PDF, 435 KB

english, 2014

11

Effects of Cytoskeletal Neurotoxins on Axonal Growth

Rizzuto, N., Monaco, S., Moretto, G., Simonati, A.

Journal:

Human & Experimental Toxicology

Year:

1989

Language:

english

File:

PDF, 89 KB

english, 1989

12

Neuronal-Specific Roles of the Survival Motor Neuron Protein

Giavazzi, Alessio, Setola, Veronica, Simonati, Alessandro, Battaglia, Giorgio

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2006

Language:

english

File:

PDF, 781 KB

english, 2006

13

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero

G. M. Fabrizi, F. Taioli, T. Cavallaro, F. Rigatelli, A. Simonati, G. Mariani, P. Perrone, N. Rizzuto

Journal:

Acta Neuropathologica

Year:

2000

Language:

english

File:

PDF, 391 KB

english, 2000

14

Dementia, delusions and seizures: storage disease or genetic AD?

A. Alberici, C. Bonato, B. Borroni, M. Cotelli, F. Mattioli, G. Binetti, M. Gennarelli, M. D. Luca, A. Simonati, D. Perani, P. Rossini, A. Padovani

Journal:

European Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 580 KB

english, 2007

15

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review

Opri, Roberta, Fabrizi, Gian Maria, Cantalupo, Gaetano, Ferrarini, Moreno, Simonati, Alessandro, Dalla Bernardina, Bernardo, Darra, Francesca

Journal:

Year:

2016

Language:

english

File:

PDF, 2.08 MB

english, 2016

16

Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian study

Toldo, Irene, Rattin, Martina, Perissinotto, Egle, De Carlo, Debora, Bolzonella, Barbara, Nosadini, Margherita, Rossi, Livia Nicoletta, Vecchio, Angelo, Simonati, Alessandro, Carotenuto, Marco, Scalas

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.47 MB

english, 2017

17

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-RELATED disorders

Mastrangelo, Mario, Sartori, Stefano, Simonati, Alessandro, Brinciotti, Mario, Moro, Francesca, Nosadini, Margherita, Pezzini, Francesco, Doccini, Stefano, Santorelli, Filippo Maria, Leuzzi, Vincenzo

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 3.34 MB

english, 2018

18

Lumbar epidural ewing sarcoma

A. Simonati, M. Vio, A. M. Iannucci, A. Bricolo, N. Rizzuto

Journal:

Journal of Neurology

Year:

1981

Language:

english

File:

PDF, 1.32 MB

english, 1981

19

Human pathology in NCL

Anderson, Glenn W., Goebel, Hans H., Simonati, Alessandro

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2013

Language:

english

File:

PDF, 5.36 MB

english, 2013

20

Choroid plexus papilloma of the cerebello-pontine angle

Simonati, A., Bricolo, A., Vio, M., Rizzuto, N.

Journal:

min - Minimally Invasive Neurosurgery

Year:

1983

Language:

english

File:

PDF, 1.38 MB

english, 1983

21

Revelation of a Novel CLN5 Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis

Cannelli, N., Nardocci, N., Cassandrini, D., Morbin, M., Aiello, C., Bugiani, M., Criscuolo, L., Zara, F., Striano, P., Granata, T., Bertini, E., Simonati, A., Santorelli, F.

Journal:

Neuropediatrics

Year:

2007

Language:

english

File:

PDF, 426 KB

english, 2007

22

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

Morani, Federica, Doccini, Stefano, Sirica, Roberto, Paterno, Marta, Pezzini, Francesco, Ricca, Ivana, Simonati, Alessandro, Delledonne, Massimo, Santorelli, Filippo Maria

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 2.82 MB

english, 2019

23

Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome

Fabrizi, G. M., Cavallaro, T., Morbin, M., Simonati, A., Taioli, F., Rizzuto, N.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1999

Language:

english

File:

PDF, 172 KB

english, 1999

24

Stiff-man syndrome associated with nocturnal myoclonus and epilepsy.

Martinelli, P, Pazzaglia, P, Montagna, P, Coccagna, G, Rizzuto, N, Simonati, S, Lugaresi, E

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1978

Language:

english

File:

PDF, 730 KB

english, 1978

25

Neurotoxic action of 2,5-hexanedione on the autonomic nervous system: ultrastructural and functional alterations in the rat sympathetic superior cervical ganglion

A. Rossi, A. Simonati, N. Rizzuto, G. Toschi

Journal:

Year:

1982

Language:

english

File:

PDF, 2.59 MB

english, 1982

26

Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities

Marco Sparaco, Laura Maria Gaeta, Filippo Maria Santorelli, Chiara Passarelli, Giulia Tozzi, Enrico Bertini, Alessandro Simonati, Francesco Scaravilli, Franco Taroni, Charles Duyckaerts, Michele Felep

Journal:

Journal of the Neurological Sciences

Year:

2009

Language:

english

File:

PDF, 4.49 MB

english, 2009

27

Neuronal ceroid lipofuscinoses: many players, and more to come

Simonati, Alessandro, Cannelli, Natalia, Pezzini, Francesco, Aiello, Chiara, Bianchi, Marzia, Tessa, Alessandra, Santorelli, Filippo M

Journal:

Future Neurology

Year:

2009

Language:

english

File:

PDF, 1.25 MB

english, 2009

28

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

Chiara Aiello, Alessandra Terracciano, Alessandro Simonati, Giancarlo Discepoli, Natalia Cannelli, Dianela Claps, Yanick J. Crow, Marzia Bianchi, Claudia Kitzmuller, Daniela Longo, Antonietta Tavoni,

Journal:

Year:

2009

Language:

english

File:

PDF, 911 KB

english, 2009

29

Neuroaxonal Dystrophy with Dystonia and Pallidal Involvement

Simonati, A., Trevisan, C., Salviati, A., Rizzuto, N.

Journal:

Neuropediatrics

Year:

1999

Language:

english

File:

PDF, 1.31 MB

english, 1999

30

Effects of Isovolumetric Venesection on Blood Viscosity, on Red Cell Deformability, and on Arterial Flow Velocity in Chronic Respiratory Failure with Secondary Polycythemia

Marazzini, Luigi, Soroldoni, Marco, Clivati, Alberto, Simonati, Oliviero, Ogliari, Luigi, Brasca, Flavio, Agosti, Roberto, Longhini, Erminío

Journal:

Year:

1981

Language:

english

File:

PDF, 1013 KB

english, 1981

31

Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation

Massimiliano Filosto, Michelangelo Mancuso, Giuliano Tomelleri, Nicolo’ Rizzuto, Bernardo Dalla Bernardina, Salvatore DiMauro, Alessandro Simonati

Journal:

Acta Neuropathologica

Year:

2004

Language:

english

File:

PDF, 352 KB

english, 2004

32

Neuropathology of mitochondrial diseases

Massimiliano Filosto, Giuliano Tomelleri, Paola Tonin, Mauro Scarpelli, Gaetano Vattemi, Nicolò Rizzuto, Alessandro Padovani, Alessandro Simonati

Journal:

Bioscience Reports

Year:

2007

Language:

english

File:

PDF, 345 KB

english, 2007

33

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

A Simonati, G.M Fabrizi, A Pasquinelli, F Taioli, T Cavallaro, M Morbin, G Marcon, M Papini, N Rizzuto

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 868 KB

english, 1999

34

Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells

Pezzini, Francesco, Bettinetti, Laura, Di Leva, Francesca, Bianchi, Marzia, Zoratti, Elisa, Carrozzo, Rosalba, Santorelli, Filippo M., Delledonne, Massimo, Lalowski, Maciej, Simonati, Alessandro

Journal:

Cellular and Molecular Neurobiology

Year:

2017

Language:

english

File:

PDF, 5.97 MB

english, 2017

35

High-Field Magnetic Resonance Imaging of the Developing Human Brain from the 10th to the 16th Week of Gestational Age

Sbarbati, A., Marzola, P., Simonati, A., Nicolato, E., Osculati, F.

Journal:

Cells Tissues Organs

Year:

1998

Language:

english

File:

PDF, 270 KB

english, 1998

36

Cell proliferation and death: Morphological evidence during corticogenesis in the developing human brain

Simonati, Alessandro, Tosati, Cinzia, Rosso, Tiziana, Piazzola, Elena, Rizzuto, Nicolo

Journal:

Microscopy Research and Technique

Year:

1999

Language:

english

File:

PDF, 794 KB

english, 1999

37

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)

Alessandro Simonati, Massimiliano Filosto, Chiara Savio, Giuliano Tomelleri, Paola Tonin, Bernardo Dalla Bernardina, Nicolo' Rizzuto

Journal:

Acta Neuropathologica

Year:

2003

Language:

english

File:

PDF, 822 KB

english, 2003

38

Novel mutations inCLN8in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean

Natalia Cannelli, Denise Cassandrini, Enrico Bertini, Pasquale Striano, Lucia Fusco, Roberto Gaggero, Nicola Specchio, Roberta Biancheri, Federico Vigevano, Claudio Bruno, Alessandro Simonati, Federic

Journal:

Year:

2006

Language:

english

File:

PDF, 389 KB

english, 2006

39

Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients

A. Simonati, N. Rizzuto

Journal:

Neurological Sciences

Year:

2000

Language:

english

File:

PDF, 1.03 MB

english, 2000

40

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

Alessandro Simonati, Alessandra Tessa, Bernardo Dalla Bernardina, Roberta Biancheri, Edvige Veneselli, Giulia Tozzi, Maria Bonsignore, Salvatore Grosso, Fiorella Piemonte, Filippo M. Santorelli

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

41

NCL diseases — clinical perspectives

Schulz, Angela, Kohlschütter, Alfried, Mink, Jonathan, Simonati, Alessandro, Williams, Ruth

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2013

Language:

english

File:

PDF, 360 KB

english, 2013

42

Clinical Features of Kleine-Levin Syndrome with Localized Encephalitis

F. Fenzi, A. Simonati, F. Crosato, L. Ghersini, N. Rizzuto

Year:

1993

Language:

english

File:

PDF, 378 KB

english, 1993

43

Physicochemical characters of a ribonucleoprotein fragment extracted from rat brain, and their modification due to either environmental or chemical influence

M.C. Sorgato, S. Simonati, L. Garbin, C. Pagura, A. Marzotto, L. Galzigna

Journal:

Chemico-Biological Interactions

Year:

1974

Language:

english

File:

PDF, 739 KB

english, 1974

44

Etiology of hepatocellular carcinoma influences clinical and pathologic features but not patient survival

Umberto Gelatti, Francesco Donato, Alessandro Tagger, Cristina Fantoni, Nazario Portolani, Maria Lisa Ribero, Claudia Martelli, Paola Trevisi, Loredana Covolo, Cristina Simonati, Giuseppe Nardi

Journal:

American Journal of Gastroenterology

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

45

EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer’s Disease

Alberici, Antonella, Borroni, Barbara, Bonato, Claudio, Agosti, Chiara, Avanzi, Stefano, Santorelli, Filippo M., Simonati, Alessandro, Padovani, Alessandro

Journal:

Neurodegenerative Diseases

Year:

2011

Language:

english

File:

PDF, 388 KB

english, 2011

46

Cerebro-Ocular Dysplasia and Muscular Dystrophy: Report of Two Cases

Federico, A., Dotti, M., Malandrini, A., Guazzi, G., Hayek, G., Simonati, A., Rizzuto, N., Toti, P.

Journal:

Neuropediatrics

Year:

1988

Language:

english

File:

PDF, 479 KB

english, 1988

47

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V

Ennio Toscano, Alessandro Simonati, Yasuhiro Indo, Generoso Andria

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.70 MB

english, 2002

48

Ponto-cerebellar hypoplasia with dystonia: clinico-pathological findings in a sporadic case

A. Simonati, Bernardo Dalla Bernardina, Romano Colombari, Nicoló Rizzuto

Journal:

Child's Nervous System

Year:

1997

Language:

english

File:

PDF, 757 KB

english, 1997

49

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

Maria Bonsignore, Alessandra Tessa, Gabriella Di Rosa, Fiorella Piemonte, Carlo Dionisi-Vici, Alessandro Simonati, Filippo Calamoneri, Gaetano Tortorella, Filippo M. Santorelli

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

50

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

Celeste Panteghini, Giovanna Zorzi, Paola Venco, Sabrina Dusi, Chiara Reale, Dario Brunetti, Luisa Chiapparini, Federica Zibordi, Brigitte Siegel, Barbara Garavaglia, Alessandro Simonati, Enrico Berti

Journal:

Seminars in Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 1.75 MB

english, 2012

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