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在“SpringerLink电子期刊”中，命中：16条，耗时：小于0.01 秒

在所有数据库中总计命中：13条

1. Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1

作者： Marta Lucchetta ; Renzo Manara ; Giorgio Perilongo ; Maurizio Clementi…

关键词：Neurofibromatosis type 1 ; Gliomas ; Gadolinium ; Lesions ; Magnetic resonance imaging

刊名：La radiologia medica

出版年：2016

2. Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen

作者：Marco Pozzi (1)
Luigi Piccinini (1)
Maurizio Gallo (2)
Francesco Motta (3)
Sonia Radice (4)
Emilio Clementi (1) (5)

1. Scientific Institute IRCCS Eugenio Medea ; 23842 Bosisio Parini ; Lecco ; Italy
2. Scuola di Specializzazione in Medicina Fisica e Riabilitativa ; Universit脿 di Milano ; 20122 ; Milan ; Italy
3. Paediatric Orthopedics and Traumatology ; Children鈥檚 Hospital V. Buzzi ; 20126 ; Milan ; Italy
4. Unit of Clinical Pharmacology ; Department of Biomedical and Clinical Sciences L. Sacco ; 鈥淟uigi Sacco鈥?University Hospital ; Universit脿 di Milano ; 20157 ; Milan ; Italy
5. Unit of Clinical Pharmacology ; CNR Institute of Neuroscience ; Department of Biomedical and Clinical Sciences L. Sacco ; 鈥淟uigi Sacco鈥?University Hospital ; Universit脿 di Milano ; Via GB Grassi 74 ; 20157 ; Milan ; Italy

关键词：Lesch ; Nyhan syndrome ; Baclofen ; Dystonia ; Self ; injurious behaviour

刊名：Orphanet Journal of Rare Diseases

出版年：2014

3. Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies

作者：Luca de Palma (1) (2)
Clementina Boniver (1)
Matteo Cassina (3)
Irene Toldo (1)
Margherita Nosadini (1)
Maurizio Clementi (3)
Stefano Sartori (1)

关键词：MECP2 duplication syndrome ; CGH array ; reflex epilepsy ; eating ; induced epileptic spasm ; focal seizures

刊名：Epileptic Disorders

出版年：2012

4. Analisi di Melt ad alta risoluzione (High Resolution Melt Analysis, HRMA): nuovo metodo di screening per il gene PKD2 in famiglie con malattia autosomica dominante del rene policistico

作者：Grazia Maria Virzì (1) (2) (4)
Alice Bruson (3)
Valentina Corradi (1) (2)
Massimo de Cal (1) (2)
Fiorella Gastaldon (1)
Dinna N. Cruz (1) (2)
Maurizio Clementi (3)
Claudio Ronco (1) (2)

关键词：Melt ad alta risoluzione ; Screening genetico ; ADPKDS ; High resolution melting analysis ; Mutation screening ; ADPKDS

刊名：La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine

出版年：2012

5. Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

作者：Alberto Casarin (1)
Gianpietro Giorgi (1)
Vanessa Pertegato (1)
Roberta Siviero (2)
Cristina Cerqua (1)
Mara Doimo (1)
Giuseppe Basso (3)
Sabrina Sacconi (4)
Matteo Cassina (1)
Rosario Rizzuto (2)
Sonja Brosel (5)
Mercy M Davidson (5)
Salvatore DiMauro (5)
Eric A Schon (5) (6)
Maurizio Clementi (1)
Eva Trevisson (1)
Leonardo Salviati (1)

关键词：COX deficiency ; Bezafibrate ; SCO2 ; Copper chaperones ; Copper supplementation

刊名：Orphanet Journal of Rare Diseases

出版年：2012

6. The Outcomes of Pregnancy in Women Exposed to the New Macrolides in the First Trimester

作者：Benjamin Bar-Oz (1)
Corinna Weber-Schoendorfer (2)
Maya Berlin (3)
Maurizio Clementi (4)
Elena Di Gianantonio (4)
Loes de Vries (5)
Marco De Santis (6)
Paul Merlob (7)
Bracha Stahl (7)
Giorgio Eleftheriou (8)
Eva Maňáková (9)
Lucie Hubi?ková-Heringová (9)
Dr Ilan Youngster (3)
Matitiahu Berkovitch (3)

刊名：Drug Safety

出版年：2012

7. Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

作者：Lucia Micale (1)
Bartolomeo Augello (1)
Carmela Fusco (1)
Angelo Selicorni (2)
Maria N Loviglio (1)
Margherita Cirillo Silengo (3)
Alexandre Reymond (4)
Barbara Gumiero (2)
Federica Zucchetti (2)
Ester V D’Addetta (1)
Elga Belligni (3)
Alessia Calcagnì (1)
Maria C Digilio (5)
Bruno Dallapiccola (5)
Francesca Faravelli (6)
Francesca Forzano (6)
Maria Accadia (7)
Aldo Bonfante (8)
Maurizio Clementi (9)
Cecilia Daolio (9)
Sofia Douzgou (10)
Paola Ferrari (11)
Rita Fischetto (12)
Livia Garavelli (13)
Elisabetta Lapi (14)
Teresa Mattina (15)
Daniela Melis (16)
Maria G Patricelli (17)
Manuela Priolo (18)
Paolo Prontera (19)
Alessandra Renieri (20)
Maria A Mencarelli (20)
Gioacchino Scarano (21)
della Matteo Monica (21)
Benedetta Toschi (22)
Licia Turolla (23)
Alessandra Vancini (24)
Adriana Zatterale (25)
Orazio Gabrielli (26)
Leopoldo Zelante (1)
Giuseppe Merla (1)

刊名：Orphanet Journal of Rare Diseases

出版年：2011

8.Comorbidity between headache and epilepsy in a pediatric headache center

作者：Irene Toldo ; Egle Perissinotto ; Francesca Menegazzo ; Clementina Boniver ; Stefano Sartori ; Leonardo Salviati ; Maurizio Clementi ; Pasquale Montagna and Pier Antonio Battistella

关键词：Headache ; Migraine ; Epilepsy ; Comorbidity ; Children

刊名：The Journal of Headache and Pain

出版年：2010

9.Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

作者：Charlotte H. W. Wijers ; Ivo de Blaauw ; Carlo L. M. Marcelis ; Rene M. H. Wijnen ; Han Brunner ; Paola Midrio ; Piergiorgio Gamba ; Maurizio Clementi ; Ekkehart Jenetzky and Nadine Zwink ; et al.

关键词：Anorectal malformation ; Genetics ; Environmental factors ; Etiology ; Children ; Birth defects

刊名：Pediatric Surgery International

出版年：2010

10.Neurofibromatosis type 1 and infantile spasms

作者：Martino Ruggieri ; Paola Iannetti ; Maurizio Clementi ; Agata Polizzi ; Gemma Incorpora ; Alberto Spalice ; Piero Pavone ; Andrea Domenico Pratic¨° ; Maurizio Elia and Anna Lia Gabriele ; et al.

关键词：Neurofibromatosis ; Infantile spasms ; Developmental disorders

刊名：Child's Nervous System

出版年：2009

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