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Items: 1 to 50 of 133

1.

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.

Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S.

Int J Mol Sci. 2019 Jul 24;20(15). pii: E3621. doi: 10.3390/ijms20153621.

2.

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.

3.

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Matricardi S, Canafoglia L, Ardissone A, Moroni I, Ragona F, Ghezzi D, Lamantea E, Nardocci N, Franceschetti S, Granata T.

Acta Neurol Scand. 2019 Sep;140(3):184-193. doi: 10.1111/ane.13130. Epub 2019 Jun 6.

PMID:
31102535
4.

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

Saredi S, Gibertini S, Matalonga L, Farina L, Ardissone A, Moroni I, Mora M.

Neuromuscul Disord. 2019 May;29(5):376-380. doi: 10.1016/j.nmd.2019.04.001. Epub 2019 Apr 10.

PMID:
31040037
5.

Balance impairment in pediatric charcot-marie-tooth disease.

Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP.

Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.

PMID:
31026080
6.

Sex-Related Differences in Plasma Oxytocin Levels in Humans.

Marazziti D, Baroni S, Mucci F, Piccinni A, Moroni I, Giannaccini G, Carmassi C, Massimetti E, Dell'Osso L.

Clin Pract Epidemiol Ment Health. 2019 Mar 26;15:58-63. doi: 10.2174/1745017901915010058. eCollection 2019.

7.

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.

Tonduti D, Izzo G, D'Arrigo S, Riva D, Moroni I, Zorzi G, Cavallera V, Pichiecchio A, Uggetti C, Veggiotti P, Orcesi S, Chiapparini L, Parazzini C.

Mol Genet Metab. 2019 Apr;126(4):489-494. doi: 10.1016/j.ymgme.2019.02.006. Epub 2019 Feb 25.

PMID:
30826161
8.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
9.

Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2019 Apr 1;142(4):e14. doi: 10.1093/brain/awy332. No abstract available.

10.

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Ciaccio C, Saletti V, D'Arrigo S, Esposito S, Alfei E, Moroni I, Tonduti D, Chiapparini L, Pantaleoni C, Milani D.

Eur J Med Genet. 2018 Dec 4. pii: S1769-7212(18)30424-5. doi: 10.1016/j.ejmg.2018.12.001. [Epub ahead of print]

PMID:
30528446
11.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O.

Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280. Erratum in: Brain. 2019 Apr 1;142(4):e14.

PMID:
30476010
12.

Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B, Orcesi S.

Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y.

13.

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

Rizzo A, Alfei E, Zibordi F, Saletti V, Zorzi G, Freri E, Estienne M, Girgenti V, D'Arrigo S, Esposito S, Buldrini B, Moroni I, Milani D, Granata T, Ardissone A, Eoli M, Molteni B, Bigoni S, Pantaleoni C, Nardocci N, Sciacca FL.

Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):557-562. doi: 10.1002/ajmg.b.32649. Epub 2018 Aug 14.

PMID:
30105822
14.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.

15.

Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.

Lencioni T, Piscosquito G, Rabuffetti M, Sipio ED, Diverio M, Moroni I, Padua L, Pagliano E, Schenone A, Pareyson D, Ferrarin M.

Gait Posture. 2018 May;62:497-504. doi: 10.1016/j.gaitpost.2018.04.014. Epub 2018 Apr 13.

PMID:
29679921
16.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D.

Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Review.

17.

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AM, Moroni I, Bertini E, Robinson A, Carrozzo R, Zeviani M, Ghezzi D.

J Hum Genet. 2018 May;63(5):563-568. doi: 10.1038/s10038-018-0423-1. Epub 2018 Mar 12.

18.

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

19.

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Tonduti D, Invernizzi F, Panteghini C, Pinelli L, Battaglia S, Fazzi E, Zorzi G, Moroni I, Garavaglia B, Chiapparini L, Nardocci N.

Eur J Paediatr Neurol. 2018 Mar;22(2):332-335. doi: 10.1016/j.ejpn.2017.11.012. Epub 2017 Dec 16.

PMID:
29287834
20.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

21.

Italian prescribing patterns in obsessive-compulsive disorder.

Marazziti D, Albert U, Dell'Osso B, Tundo A, Cuniberti F, Maina G, Moroni I, Benatti B, Mucci F, Massimetti G, Piccinni A, Brakoulias V.

Hum Psychopharmacol. 2017 Nov;32(6). doi: 10.1002/hup.2641. Epub 2017 Oct 2.

PMID:
28967153
22.

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects.

Lencioni T, Piscosquito G, Rabuffetti M, Bovi G, Di Sipio E, Diverio M, Moroni I, Padua L, Pagliano E, Schenone A, Pareyson D, Ferrarin M.

Neuromuscul Disord. 2017 Nov;27(11):1029-1037. doi: 10.1016/j.nmd.2017.07.003. Epub 2017 Jul 14.

PMID:
28844614
23.

Natural history of Charcot-Marie-Tooth disease during childhood.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group.

Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

PMID:
28796392
24.

Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis.

Invernizzi F, Panteghini C, Chiapparini L, Moroni I, Nardocci N, Garavaglia B, Tonduti D.

Neurology. 2017 Aug 22;89(8):870-871. doi: 10.1212/WNL.0000000000004270. Epub 2017 Jul 26. No abstract available.

PMID:
28747443
25.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M.

J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10.

PMID:
28695364
26.

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.

Ardissone A, Moroni I, Bernasconi P, Brugnoni R.

Acta Myol. 2017 Mar;36(1):28-32.

27.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D.

Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1.

28.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.

Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.

29.

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

Mancuso M, Orsucci D, Angelini C, Bertini E, Bruno C, Carelli V, Comi GP, Filosto M, Lamperti C, Moggio M, Mongini T, Moroni I, Tonin P, Toscano A, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2017 Apr;27(4):e1. doi: 10.1016/j.nmd.2017.01.003. Epub 2017 Feb 8. No abstract available.

PMID:
28189480
30.

Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.

Ardissone A, Sansone V, Colleoni L, Bernasconi P, Moroni I.

Neuromuscul Disord. 2017 Mar;27(3):294-297. doi: 10.1016/j.nmd.2016.11.006. Epub 2016 Nov 18.

PMID:
28024840
31.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

32.

Adult Autism Subthreshold Spectrum (AdAS Spectrum): Validation of a questionnaire investigating subthreshold autism spectrum.

Dell'Osso L, Gesi C, Massimetti E, Cremone IM, Barbuti M, Maccariello G, Moroni I, Barlati S, Castellini G, Luciano M, Bossini L, Rocchetti M, Signorelli M, Aguglia E, Fagiolini A, Politi P, Ricca V, Vita A, Carmassi C, Maj M.

Compr Psychiatry. 2017 Feb;73:61-83. doi: 10.1016/j.comppsych.2016.11.001. Epub 2016 Nov 9.

PMID:
27918948
33.

From Asperger's Autistischen Psychopathen to DSM-5 Autism Spectrum Disorder and Beyond: A Subthreshold Autism Spectrum Model.

Dell'Osso L, Luche RD, Gesi C, Moroni I, Carmassi C, Maj M.

Clin Pract Epidemiol Ment Health. 2016 Nov 3;12:120-131. eCollection 2016. Review.

34.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP.

Muscle Nerve. 2017 Jan;55(1):55-68. doi: 10.1002/mus.25192. Epub 2016 Oct 28.

35.

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R.

J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26.

PMID:
27785568
36.

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M.

J Med Genet. 2016 Dec;53(12):846-849. doi: 10.1136/jmedgenet-2016-104194. Epub 2016 Sep 28.

37.

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Nasca A, Legati A, Baruffini E, Nolli C, Moroni I, Ardissone A, Goffrini P, Ghezzi D.

Hum Mutat. 2016 Sep;37(9):898-903. doi: 10.1002/humu.23033. Epub 2016 Jul 11.

38.

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM.

Neurogenetics. 2016 Jul;17(3):191-5. doi: 10.1007/s10048-016-0488-y. Epub 2016 Jun 2.

PMID:
27251579
39.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175.

40.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP.

J Mol Neurosci. 2016 Jul;59(3):351-9. doi: 10.1007/s12031-016-0739-2. Epub 2016 Apr 22.

PMID:
27105866
41.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ.

Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7.

PMID:
27091087
42.

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N.

Curr Neurol Neurosci Rep. 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. Review.

PMID:
27074771
43.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium.

JAMA Neurol. 2016 Jun 1;73(6):645-51. doi: 10.1001/jamaneurol.2016.0171.

44.

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G.

Neuromuscul Disord. 2016 Apr-May;26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008. Epub 2016 Feb 23.

45.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, Garavaglia B, Lamperti C, Ardissone A, Moroni I, Robinson A, Ghezzi D, Zeviani M.

Biochim Biophys Acta. 2016 Aug;1857(8):1326-1335. doi: 10.1016/j.bbabio.2016.02.022. Epub 2016 Mar 8.

46.

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.

Ardissone A, Invernizzi F, Nasca A, Moroni I, Farina L, Ghezzi D.

Mol Genet Metab Rep. 2015 Dec;5:51-54.

47.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E.

Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Erratum in: Brain. 2018 Nov 1;141(11):e82.

PMID:
26912632
48.

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I.

Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16.

PMID:
26780752
49.

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.

Tonduti D, Ardissone A, Ceccherini I, Giaccone G, Farina L, Moroni I.

Neurol Sci. 2016 Jun;37(6):973-7. doi: 10.1007/s10072-015-2466-9. Epub 2016 Jan 7.

PMID:
26743065
50.

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K; SDH Study Group, Taft RJ, Vanderver A, van der Knaap MS.

Ann Neurol. 2016 Mar;79(3):379-86. doi: 10.1002/ana.24572. Epub 2016 Feb 12. Erratum in: Ann Neurol. 2018 Sep;84(3):481.

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