Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 438

1.

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study.

Germanotta M, Vasco G, Petrarca M, Rossi S, Carniel S, Bertini E, Cappa P, Castelli E.

J Neuroeng Rehabil. 2015 Apr 23;12(1):41. [Epub ahead of print]

2.

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

Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G.

Orphanet J Rare Dis. 2015 Feb 27;10(1):22. doi: 10.1186/s13023-015-0240-y.

3.

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C.

Orphanet J Rare Dis. 2015 Mar 11;10(1):29. doi: 10.1186/s13023-015-0242-9.

4.

Mitochondria fingerprint longevity in iPSCs.

Masotti A, Bertini E, Compagnucci C.

Oncotarget. 2015 Mar 20;6(8):5475-746. No abstract available.

5.

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E, Tiziano FD, D'Amico A, Piazza E, Abiusi E, Fiori S, Pasini E, Darra F, Gobbi G, Michelucci R.

Epilepsia. 2015 Apr 3. doi: 10.1111/epi.12977. [Epub ahead of print]

PMID:
25847462
6.

Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.

Trivisano M, Terracciano A, Milano T, Cappelletti S, Pietrafusa N, Bertini ES, Vigevano F, Specchio N.

Epilepsia. 2015 Apr 3. doi: 10.1111/epi.12967. [Epub ahead of print]

PMID:
25847220
7.

Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 Mar 26. [Epub ahead of print]

PMID:
25808502
8.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 Mar 17. [Epub ahead of print] No abstract available.

PMID:
25778942
9.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R.

J Med Genet. 2015 Mar 9. pii: jmedgenet-2014-102959. doi: 10.1136/jmedgenet-2014-102959. [Epub ahead of print]

PMID:
25755106
10.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D.

Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.

PMID:
25658047
11.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

PMID:
25654555
12.

Prevalence of congenital muscular dystrophy in Italy: a population study.

Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E.

Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4.

PMID:
25653289
13.

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys.

Pane M, Mazzone ES, Sivo S, Fanelli L, De Sanctis R, D'Amico A, Messina S, Battini R, Bianco F, Scutifero M, Petillo R, Frosini S, Scalise R, Vita GL, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Busato F, Bonfiglio S, Rolle E, Colia G, Bonetti A, Palermo C, Graziano A, D'Angelo G, Pini A, Corlatti A, Gorni K, Baranello G, Antonaci L, Bertini E, Politano L, Mercuri E.

PLoS Curr. 2014 Oct 7;6. pii: ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6. doi: 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6.

14.

Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis.

Masotti A, Celluzzi A, Petrini S, Bertini E, Zanni G, Compagnucci C.

Aging (Albany NY). 2014 Dec;6(12):1094-108.

15.

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

Bianco F, Pane M, D'Amico A, Messina S, Delogu AB, Soraru G, Pera MC, Mongini T, Politano L, Baranello G, Vita G, Tiziano FD, Morandi L, Bertini E, Mercuri E.

Neuropediatrics. 2015 Feb;46(1):33-6. doi: 10.1055/s-0034-1395348. Epub 2014 Dec 24.

PMID:
25539139
16.

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa Histone Deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

Compagnucci C, Barresi S, Petrini S, Bertini E, Zanni G.

Biochem Biophys Res Commun. 2015 Apr 3;459(2):179-83. doi: 10.1016/j.bbrc.2014.12.033. Epub 2014 Dec 12.

PMID:
25511694
17.

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy.

De Sanctis R, Pane M, Sivo S, Ricotti V, Baranello G, Frosini S, Mazzone E, Bianco F, Fanelli L, Main M, Corlatti A, D'Amico A, Colia G, Scalise R, Palermo C, Alfonsi C, Tritto G, Romeo DM, Graziano A, Battini R, Morandi L, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2015 Jan;25(1):14-8. doi: 10.1016/j.nmd.2014.09.015. Epub 2014 Oct 6.

PMID:
25454732
18.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.

19.

Congenital myopathies: Rebuilding the natural history, one gene at a time.

Bertini E, Darras BT.

Neurology. 2015 Jan 6;84(1):15-6. doi: 10.1212/WNL.0000000000001117. Epub 2014 Nov 26. No abstract available.

PMID:
25428690
20.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM.

Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk