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Items: 1 to 50 of 186

1.

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Brogna C, Coratt G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group.

PLoS One. 2019 Jul 31;14(7):e0220714. doi: 10.1371/journal.pone.0220714. eCollection 2019.

2.

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group.

PLoS One. 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019. Erratum in: PLoS One. 2019 Jul 31;14(7):e0220714.

3.

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C.

J Clin Med. 2019 May 26;8(5). pii: E750. doi: 10.3390/jcm8050750.

4.

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C.

Mol Genet Metab. 2019 Jun;127(2):132-137. doi: 10.1016/j.ymgme.2019.05.004. Epub 2019 May 10.

PMID:
31104889
5.

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

Milone R, Masson R, Di Cosmo C, Tonacchera M, Bertini V, Guzzetta A, Battini R.

Child Neurol Open. 2019 Feb 12;6:2329048X19828881. doi: 10.1177/2329048X19828881. eCollection 2019.

6.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.

Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

7.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F.

Nephrol Dial Transplant. 2018 Nov 6. doi: 10.1093/ndt/gfy333. [Epub ahead of print]

PMID:
30403813
8.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M.

Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.

9.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

10.

Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings.

Lucibello S, Verdolotti T, Giordano FM, Lapenta L, Infante A, Piludu F, Tartaglione T, Chieffo D, Colosimo C, Mercuri E, Battini R.

Clin Anat. 2019 Jan;32(1):143-150. doi: 10.1002/ca.23252.

PMID:
30113100
11.

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.

Aretini P, Mazzanti CM, La Ferla M, Franceschi S, Lessi F, De Gregorio V, Nesti C, Valetto A, Bertini V, Toschi B, Battini R, Caligo MA.

BMC Neurol. 2018 Jul 20;18(1):99. doi: 10.1186/s12883-018-1103-7.

12.

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V.

Neurogenetics. 2018 Aug;19(3):179-187. doi: 10.1007/s10048-018-0552-x. Epub 2018 Jul 3.

PMID:
29971521
13.

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

Brogna C, Cristiano L, Tartaglione T, Verdolotti T, Fanelli L, Ficociello L, Tasca G, Battini R, Coratti G, Forcina N, De Santis R, Norcia G, Carnicella S, Colosimo C, Carlier P, Pane M, Mercuri E.

PLoS One. 2018 Jun 20;13(6):e0199222. doi: 10.1371/journal.pone.0199222. eCollection 2018.

14.

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E.

PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018.

15.

Four years follow up of ACY1 deficient patient and pedigree study.

Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R.

Brain Dev. 2018 Aug;40(7):570-575. doi: 10.1016/j.braindev.2018.03.009. Epub 2018 Apr 10.

PMID:
29653693
16.

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

Vicari S, Piccini G, Mercuri E, Battini R, Chieffo D, Bulgheroni S, Pecini C, Lucibello S, Lenzi S, Moriconi F, Pane M, D'Amico A, Astrea G, Baranello G, Riva D, Cioni G, Alfieri P.

PLoS One. 2018 Jan 16;13(1):e0191164. doi: 10.1371/journal.pone.0191164. eCollection 2018.

17.

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

Battini R, Chieffo D, Bulgheroni S, Piccini G, Pecini C, Lucibello S, Lenzi S, Moriconi F, Pane M, Astrea G, Baranello G, Alfieri P, Vicari S, Riva D, Cioni G, Mercuri E.

Neuromuscul Disord. 2018 Feb;28(2):122-128. doi: 10.1016/j.nmd.2017.11.018. Epub 2017 Dec 6.

PMID:
29305139
18.

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs.

Magliano L, Scutifero M, Patalano M, Sagliocchi A, Zaccaro A, Civati F, Brighina E, Vita G, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Ricci G, D'Angelo MG, Vita G, Pane M, D'Amico A, Balottin U, Angelini C, Battini R, Politano L.

Acta Myol. 2017 Jun;36(2):41-45. Review. Erratum in: Acta Myol. 2017 Sep 01;36(3):183.

19.

Inter and intra-rater reliability and minimal detectable difference of Movement Disorder-Childhood Rating Scale.

Sgandurra G, Olivieri I, Casarano M, DI Pietro R, Menici V, Velli C, Sini F, Lucibello S, Romeo DM, Cioni G, Battini R.

Eur J Phys Rehabil Med. 2018 Feb;54(1):48-57. doi: 10.23736/S1973-9087.17.04661-5. Epub 2017 Jul 13.

20.

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions.

Politano L, Scutifero M, Patalano M, Sagliocchi A, Zaccaro A, Civati F, Brighina E, Vita G, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Ricci G, D'Angelo MG, Vita G, Pane M, D'Amico A, Balottin U, Angelini C, Battini R, Magliano L.

Acta Myol. 2017 Mar;36(1):19-24. Erratum in: Acta Myol. 2017 Sep 01;36(3):182.

21.

Pharmacokinetics-directed Intravenous Busulfan Combined With High-dose Melphalan and Bortezomib as a Conditioning Regimen for Patients With Multiple Myeloma.

Barta SK, Jain R, Mazumder A, Carter J, Almanzar L, Browne R, Shahnaz S, Elkind R, Kaminetzky D, Battini R, Derman O, Kornblum N, Verma A, Braunschweig I.

Clin Lymphoma Myeloma Leuk. 2017 Oct;17(10):650-657. doi: 10.1016/j.clml.2017.06.005. Epub 2017 Jun 17.

PMID:
28684379
22.

Stimulation of adrenergic activity by desipramine enhances hematopoietic stem and progenitor cell mobilization along with G-CSF in multiple myeloma: A pilot study.

Shastri A, Budhathoki A, Barta SK, Kornblum N, Derman O, Battini R, Raghupathy R, Verma AK, Frenette PS, Braunschweig I, Janakiram M.

Am J Hematol. 2017 Oct;92(10):1047-1051. doi: 10.1002/ajh.24843. Epub 2017 Jul 29.

23.

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM.

Dev Med Child Neurol. 2017 Aug;59(8):815-821. doi: 10.1111/dmcn.13473. Epub 2017 May 25.

24.

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Bertini V, Azzarà A, Legitimo A, Milone R, Battini R, Consolini R, Valetto A.

Front Genet. 2017 May 1;8:47. doi: 10.3389/fgene.2017.00047. eCollection 2017.

25.

EDITORIAL.

Siciliano G, Santorelli FM, Battini R.

Acta Myol. 2016 Dec;35(3):121. No abstract available.

26.

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C.

Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15.

PMID:
28442211
27.

Learning disabilities in neuromuscular disorders: a springboard for adult life.

Astrea G, Battini R, Lenzi S, Frosini S, Bonetti S, Moretti E, Perazza S, Santorelli FM, Pecini C.

Acta Myol. 2016 Oct;35(2):90-95. Review.

28.

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.

D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, Pane M, D'Angelo MG, Bruno C, Messina S, Ricci F, Pegoraro E, Pini A, Berardinelli A, Gorni K, Battini R, Vita G, Trucco F, Scutifero M, Petillo R, D'Ambrosio P, Ardissone A, Pasanisi B, Vita G, Mongini T, Moggio M, Comi GP, Mercuri E, Bertini E.

Neuromuscul Disord. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. Epub 2017 Feb 14.

29.

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.

Battini R, Alessandrì MG, Casalini C, Casarano M, Tosetti M, Cioni G.

Orphanet J Rare Dis. 2017 Feb 2;12(1):21. doi: 10.1186/s13023-017-0577-5.

30.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
31.

JAK2 V617F mutation, multiple hematologic and non-hematologic processes: an association?

Liu KG, Verma A, Derman O, Kornblum N, Janakiram M, Braunschweig I, Battini R.

Biomark Res. 2016 Oct 19;4:19. eCollection 2016.

32.

Dynamic Phosphorylation of the Myocyte Enhancer Factor 2Cα1 Splice Variant Promotes Skeletal Muscle Regeneration and Hypertrophy.

Baruffaldi F, Montarras D, Basile V, De Feo L, Badodi S, Ganassi M, Battini R, Nicoletti C, Imbriano C, Musarò A, Molinari S.

Stem Cells. 2017 Mar;35(3):725-738. doi: 10.1002/stem.2495. Epub 2016 Sep 28.

33.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

34.

Cognitive, adaptive, and behavioral features in Joubert syndrome.

Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D.

Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17.

PMID:
27530364
35.

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.

Mercuri E, Coratti G, Messina S, Ricotti V, Baranello G, D'Amico A, Pera MC, Albamonte E, Sivo S, Mazzone ES, Arnoldi MT, Fanelli L, De Sanctis R, Romeo DM, Vita GL, Battini R, Bertini E, Muntoni F, Pane M.

PLoS One. 2016 Aug 5;11(8):e0160195. doi: 10.1371/journal.pone.0160195. eCollection 2016.

36.

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli FM.

Eur J Neurol. 2016 Oct;23(10):1580-7. doi: 10.1111/ene.13085. Epub 2016 Jul 22.

PMID:
27444738
37.

Adult T-cell leukemia/lymphoma in the Caribbean cohort is a distinct clinical entity with dismal response to conventional chemotherapy.

Zell M, Assal A, Derman O, Kornblum N, Battini R, Wang Y, Narasimhulu DM, Mantzaris I, Shastri A, Verma A, Ye H, Braunschweig I, Janakiram M.

Oncotarget. 2016 Aug 9;7(32):51981-51990. doi: 10.18632/oncotarget.10223.

38.

High prevalence and allele burden-independent prognostic importance of p53 mutations in an inner-city MDS/AML cohort.

Goel S, Hall J, Pradhan K, Hirsch C, Przychodzen B, Shastri A, Mantzaris I, Janakiram M, Battini R, Kornblum N, Derman O, Gritsman K, Al-Hafidh J, Wang Y, Halmos B, Steidl U, Maciejewski JP, Braunschweig I, Verma A.

Leukemia. 2016 Aug;30(8):1793-5. doi: 10.1038/leu.2016.74. Epub 2016 Apr 29. No abstract available.

PMID:
27125205
39.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V.

Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17.

40.

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E.

PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016.

41.

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.

Milone R, Valetto A, Battini R, Bertini V, Valvo G, Cioni G, Sicca F.

Eur J Med Genet. 2016 May;59(5):278-82. doi: 10.1016/j.ejmg.2016.03.003. Epub 2016 Mar 11.

PMID:
26975584
42.

Analysis of chronic myelogenous leukemia in an underserved, inner-city cohort shows a significant five year overall survival that is not affected by choice of tyrosine kinase inhibitor.

Assal A, Dong B, Khan H, Medavarapu R, Shastri A, Pradhan K, Friedman E, Mantzaris I, Janakiram M, Battini R, Kornblum N, Yu Y, Verma A, Braunschweig I, Derman O.

Leuk Lymphoma. 2016 Oct;57(10):2452-5. doi: 10.3109/10428194.2016.1142087. Epub 2016 Feb 17. No abstract available.

PMID:
26886689
43.

Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution.

Fiori S, Poretti A, Pannek K, Del Punta R, Pasquariello R, Tosetti M, Guzzetta A, Rose S, Cioni G, Battini R.

AJNR Am J Neuroradiol. 2016 May;37(5):917-23. doi: 10.3174/ajnr.A4607. Epub 2015 Dec 10.

44.

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.

Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D'Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2015 Dec 4;10(12):e0144079. doi: 10.1371/journal.pone.0144079. eCollection 2015. No abstract available.

45.

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ.

Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17.

46.

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

Astrea G, Pecini C, Gasperini F, Brisca G, Scutifero M, Bruno C, Santorelli FM, Cioni G, Politano L, Chilosi AM, Battini R.

Res Dev Disabil. 2015 Oct-Nov;45-46:168-77. doi: 10.1016/j.ridd.2015.07.025. Epub 2015 Aug 6.

PMID:
26255617
47.

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.

Pane M, Fanelli L, Mazzone ES, Olivieri G, D'Amico A, Messina S, Scutifero M, Battini R, Petillo R, Frosini S, Sivo S, Vita GL, Bruno C, Mongini T, Pegoraro E, De Sanctis R, Gardani A, Berardinelli A, Lanzillotta V, Carlesi A, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bianco F, Bonfiglio S, Rolle E, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E.

Neuromuscul Disord. 2015 Oct;25(10):749-53. doi: 10.1016/j.nmd.2015.07.009. Epub 2015 Jul 17.

48.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G.

BMC Med Genet. 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0.

49.

Movement Disorder-Childhood Rating Scale: A Sensitive Tool to Evaluate Movement Disorders.

Battini R, Olivieri I, Di Pietro R, Casarano M, Sgandurra G, Romeo DM, Cioni G.

Pediatr Neurol. 2015 Jul;53(1):73-7. doi: 10.1016/j.pediatrneurol.2015.02.014. Epub 2015 Mar 27.

PMID:
26092416
50.

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, Cioni G, Mercuri E, Muntoni F, Battini R.

Pediatr Neurol. 2015 May;52(5):548-51. doi: 10.1016/j.pediatrneurol.2015.01.018. Epub 2015 Feb 7.

PMID:
25882082

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