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1

Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

Giuffrida, Gaetano, Cappellini, Maria Domenica, Carubbi, Francesca, Di Rocco, Maja, Iolascon, Giovanni

Journal:

Advances in Therapy

Year:

2014

Language:

english

File:

PDF, 465 KB

english, 2014

2

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardiss

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.39 MB

english, 2015

3

Open issues in Mucopolysaccharidosis type I-Hurler

Rossella Parini,Federica Deodato,Maja Di Rocco…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 452 KB

english, 2017

4

International physician survey on management of FOP: a modified Delphi study

Maja Di Rocco,Genevieve Baujat,Marta Bertamino…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 348 KB

english, 2017

5

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Di Rocco, Maja, Pisciotta, Livia, Madeo, Annalisa, Bertamino, Marta, Bertolini, Stefano

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 714 KB

english, 2018

6

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki-Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 423 KB

english, 2018

7

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

Parini, Rossella, Broomfield, Alexander, Cleary, Maureen Anne, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem Mahmoud, Guffon, Nathalie, Lampe, Christina, Lund, Allan Meldgaard, Scarpa, Maurizio

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 534 KB

english, 2018

8

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, Di Rocco, Maja, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Gro

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 246 KB

english, 2019

9

Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Pignolo, Robert J., Baujat, Geneviève, Brown, Matthew A., De Cunto, Carmen, Di Rocco, Maja, Hsiao, Edward C., Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Gro

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 246 KB

2019

10

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Kou, Samuel, De Cunto, Carmen, Baujat, GeneviÃ¨ve, Wentworth, Kelly L., Grogan, Donna R., Brown, Matthew A., Di Rocco, Maja, Keen, Richard, Al Mukaddam, Mona, le Quan Sang, Kim-Hanh, Masharani, Umesh,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 473 KB

2020

11

Parkinsonâs disease in Gaucher disease patients: whatâs changing in the counseling and management of patients and their relatives?

Di Rocco, Maja, Di Fonzo, Alessio, Barbato, Antonio, Cappellini, Maria Domenica, Carubbi, Francesca, Giona, Fiorina, Giuffrida, Gaetano, Linari, Silvia, Pession, Andrea, Quarta, Antonella, Scarpa, Mau

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 736 KB

2020

12

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?

Di Rocco, Maja, Picco, Paolo, Arslanian, Araxi, Restagno, Gabriella, Perfumo, Francesco, Buoncompagni, Antonella, Gattorno, Marco, Borrone, Carla

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 236 KB

english, 1997

13

Genotype–phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino, Pierpaolo Mastroiacovo, Tracy J. Wright, Giovanni Sorge, Angelo Selicorni, Romano Tenconi, Alessandro Zappalà, Agatino Battaglia, Maja Di Rocco

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 428 KB

english, 2000

14

Report on two patients with Costello syndrome and sialuria

Maja Di Rocco, Rosanna Gatti, Paolo Gandullia, Arrigo Barabino, Paolo Picco, Carla Borrone

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 537 KB

english, 1993

15

Concerning “Five Additional Costello Syndrome Patients with Rhabdomyosarcoma: Proposal for a Tumor Screening Protocol”

Maja Di Rocco, Paolo Dodero

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 27 KB

english, 2003

16

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease

Mirella Filocamo, Serena Grossi, Marina Stroppiano, Paolo Tortori-Donati, Stefano Regis, Anna Allegri, Maja Di Rocco

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 56 KB

english, 2005

17

Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

Massimiliano Rossi, Pietro Vajro, Raffaele Iorio, Antonella Battagliese, Nicola Brunetti-Pierri, Gaetano Corso, Maja Di Rocco, Paola Ferrari, Francesco Rivasi, Raffaella Vecchione, Generoso Andria, Gi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 348 KB

english, 2005

18

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

Francesca Faravelli, Marina Murdolo, Giuseppe Marangi, Franca Dagna Bricarelli, Maja Di Rocco, Marcella Zollino

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

19

Genetic disorders affecting white matter in the pediatric age

Maja Di Rocco, Roberta Biancheri, Andrea Rossi, Mirella Filocamo, Paolo Tortori-Donati

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2004

Language:

english

File:

PDF, 456 KB

english, 2004

20

Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes

Maja Di Rocco, Laura Doria-Lamba, Ubaldo Caruso

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 115 KB

english, 2001

21

Characterization of iduronate-2-sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method

Susanna Lualdi, Stefano Regis, Maja Di Rocco, Fabio Corsolini, Marina Stroppiano, Daniela Antuzzi, Mirella Filocamo

Journal:

Year:

2005

Language:

english

File:

PDF, 221 KB

english, 2005

22

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles

Serena Grossi, Stefano Regis, Camillo Rosano, Fabio Corsolini, Graziella Uziel, Maria Sessa, Maja Di Rocco, Giancarlo Parenti, Federica Deodato, Vincenzo Leuzzi, Roberta Biancheri, Mirella Filocamo

Journal:

Year:

2008

Language:

english

File:

PDF, 156 KB

english, 2008

23

Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter W. Thompson, Fabio Corsolini, Maja Di Rocco, Bruno Bembi, Stefano Regis, David N. Cooper

Journal:

Year:

2010

Language:

english

File:

PDF, 600 KB

english, 2010

24

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N. Cooper, Mirella F

Journal:

Year:

2010

Language:

english

File:

PDF, 790 KB

english, 2010

25

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

Michela Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo

Journal:

Year:

2007

Language:

english

File:

PDF, 259 KB

english, 2007

26

Prenatal diagnosis in two families with autosomal, p47phox-deficient chronic granulomatous disease due to a novel point mutation in NCF1

Martin de Boer, Vinita Singh, Jan Dekker, Maja Di Rocco, David Goldblatt, Dirk Roos

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 215 KB

english, 2002

27

Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly

E. Veneselli, Roberta Biancheri, Maja Di Rocco, Maria Paola Fondelli, Maria Viviana Perrone, Paolo Tortori Donati

Journal:

Child's Nervous System

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

28

Clinical and molecular genetic features of ARC syndrome

Paul Gissen, Louise Tee, Colin A. Johnson, Emmanuelle Genin, Almuth Caliebe, David Chitayat, Carol Clericuzio, Jonas Denecke, Maja Di Rocco, Björn Fischler, David FitzPatrick, Angeles García-Cazorla,

Journal:

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

29

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII

Regina Hühn, Heike Stoermer, Beate Klingele, Elke Bausch, Alberto Fois, Mariangela Farnetani, Maja Di Rocco, Joelle Boué, Jean M. Kirk, Rosalind Coleman, G. Scherer

Journal:

Year:

1998

Language:

english

File:

PDF, 326 KB

english, 1998

30

Molecular analysis ofNPC1andNPC2gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

Tatiana Fancello, Andrea Dardis, Camillo Rosano, Patrizia Tarugi, Barbara Tappino, Stefania Zampieri, Elisa Pinotti, Fabio Corsolini, Simona Fecarotta, Adele D’Amico, Maja Di Rocco, Graziella Uziel, S

Journal:

Year:

2009

Language:

english

File:

PDF, 1.02 MB

english, 2009

31

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

Renzo Manara, Elena Priante, Marco Grimaldi, Lucia Santoro, Luca Astarita, Rita Barone, Daniela Concolino, Maja Di Rocco, Maria Alice Donati, Simona Fecarotta, Anna Ficcadenti, Agata Fiumara, Francesc

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 859 KB

english, 2011

32

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report

Marta Romanengo, Paolo Tortori-Donati, Maja Di Rocco

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 866 KB

english, 1997

33

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

Bocciardi, Renata, Bordo, Domenico, Di Duca, Marco, Di Rocco, Maja, Ravazzolo, Roberto

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 280 KB

english, 2008

34

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Houten, Sander M, Koster, Janet, Romeijn, Gerrit-Jan, Frenkel, Joost, Di Rocco, Maja, Caruso, Ubaldo, Landrieu, Pierre, Kelley, Richard I, Kuis, Wietse, Poll-The, Bwee Tien

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 150 KB

english, 2001

35

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

Houten, Sander M, Koster, Janet, Romeijn, Gerrit-Jan, Frenkel, Joost, Di Rocco, Maja, Caruso, Ubaldo, Landrieu, Pierre, Kelley, Richard I, Kuis, Wietse, Poll-The, Bwee Tien

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 31 KB

english, 2001

36

Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

Alessandra Pangrazio, Pietro Luigi Poliani, André Megarbane, Gérard Lefranc, Edoardo Lanino, Maja Di Rocco, Francesca Rucci, Franco Lucchini, Maria Ravanini, Fabio Facchetti, Mario Abinun, Paolo Vezzo

Journal:

Journal of Bone and Mineral Research

Year:

2006

Language:

english

File:

PDF, 2.60 MB

english, 2006

37

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Anthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, Giovanna Sersale, Torben Lübke, Paola di Natale, Maria Pia Cosma, Andrea Ballabio

Journal:

Year:

2007

Language:

english

File:

PDF, 312 KB

english, 2007

38

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Nuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, Cynthia F. Bartels, Beyhan Tuysuz, Yasemin Alanay, Rolando Cimaz, Valerie Cormier-Daire, Maja Di Rocco, Hans-Christoph Duba, Nursel H.

Journal:

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

Year:

2012

Language:

english

File:

PDF, 590 KB

english, 2012

39

Disease severity scoring systems for Gaucher disease

Journal:

Clinical Therapeutics

Year:

2009

Language:

english

File:

PDF, 199 KB

english, 2009

40

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms

Susanna Lualdi, Maja Di Rocco, Fabio Corsolini, Marco Spada, Bruno Bembi, Giovanna Cotugno, Roberta Battini, Marina Stroppiano, Maria Gabriela Pittis, Mirella Filocamo

Journal:

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

Year:

2006

Language:

english

File:

PDF, 203 KB

english, 2006

41

Clinical and genetic characterization of Chanarin–Dorfman syndrome

Claudio Bruno, Enrico Bertini, Maja Di Rocco, Denise Cassandrini, Giuseppe Ruffa, Teresa De Toni, Marco Seri, Marco Spada, Giovanni Li Volti, Adele D’Amico, Federica Trucco, Marcello Arca, Carlo Casal

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 473 KB

english, 2008

42

Gaucher disease phenotype

Maja Di Rocco, Anna E.M. Allegri, Serena Grossi, Mirella Filocamo

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 48 KB

english, 2004

43

Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Maria Francesca Bedeschi, Maria Clara Bonaglia, Rita Grasso, Alda Pellegri, Rosaria Rita Garghentino, Maria Amalia Battaglia, Anna Maria Panarisi, Maja Di Rocco, Umberto Balottin, Nereo Bresolin, Mari

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 104 KB

english, 2006

44

Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C

Maja Di Rocco, Andrea Dardis, Annalisa Madeo, Rita Barone, Agata Fiumara

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 107 KB

english, 2012

45

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Maja Di Rocco, Ubaldo Caruso, Egill Briem, Andrea Rossi, Anna E.M. Allegri, Davide Buzzi, Valeria Tiranti

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

46

Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease

Maja Di Rocco, Maria Grazia Calevo, Marina Taro’, Daniela Melis, Anna Elsa Maria Allegri, Giancarlo Parenti

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

47

36. Biochemical and molecular findings in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement

Andrea Dardis, Mirella Filocamo, Serena Grossi, Giovanni Ciana, Silvia Dominissini, Guido Rubboli, Maja Di Rocco, Bruno Bembi

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

48

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene

Livia Pisciotta, Raffaele Fresa, Antonella Bellocchio, Elisabetta Pino, Virgilia Guido, Alfredo Cantafora, Maja Di Rocco, Sebastiano Calandra, Stefano Bertolini

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 947 KB

english, 2009

49

Clinics for adults with hereditary metabolic diseases

Maja Di Rocco, Antonella Boncompagni, Ubaldo Caruso

Journal:

The American Journal of Medicine

Year:

2002

Language:

english

File:

PDF, 49 KB

english, 2002

50

Interstitial lung disease in lysinuric protein intolerance

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 95 KB

english, 1994