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Results: 1 to 20 of 449

1.

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.

2.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E.

Eur J Hum Genet. 2015 Jul 15. doi: 10.1038/ejhg.2015.141. [Epub ahead of print]

PMID:
26173962
3.

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.

Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G.

J Neurol Sci. 2015 May 29. pii: S0022-510X(15)00303-2. doi: 10.1016/j.jns.2015.05.021. [Epub ahead of print]

PMID:
26143525
4.

Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade.

Pelosi L, Berardinelli MG, De Pasquale L, Nicoletti C, D'Amico A, Carvello F, Moneta GM, Catizone A, Bertini E, De Benedetti F, Musarò A.

EBioMedicine. 2015 Feb 26;2(4):285-93. doi: 10.1016/j.ebiom.2015.02.014. eCollection 2015 Apr.

5.

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI.

Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 1.

6.

Old measures and new scores in spinal muscular atrophy patients.

Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'amico A, Van Den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E.

Muscle Nerve. 2015 Jun 25. doi: 10.1002/mus.24748. [Epub ahead of print]

PMID:
26111847
7.

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective.

Tasca G, D'Amico A, Verardo M, Villani A, Siani P, De Brasi D, Bertini E, Boldrini R.

Neuromuscul Disord. 2015 Aug;25(8):672-3. doi: 10.1016/j.nmd.2015.05.004. Epub 2015 May 12. No abstract available.

PMID:
26077615
8.

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands.

Finkel R, Bertini E, Muntoni F, Mercuri E; ENMC SMA Workshop Study Group.

Neuromuscul Disord. 2015 Jul;25(7):593-602. doi: 10.1016/j.nmd.2015.04.009. Epub 2015 Apr 28. No abstract available.

PMID:
26045156
9.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.

Elife. 2015 May 30;4. doi: 10.7554/eLife.06602.

10.

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M.

Eur J Paediatr Neurol. 2015 May 14. pii: S1090-3798(15)00093-8. doi: 10.1016/j.ejpn.2015.04.008. [Epub ahead of print] Review.

PMID:
26008863
11.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A.

J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10.

PMID:
25957634
12.

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;12:41. doi: 10.1186/s12984-015-0032-6.

13.

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;10:22. doi: 10.1186/s13023-015-0240-y.

14.

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;10:29. doi: 10.1186/s13023-015-0242-9.

15.

Mitochondria fingerprint longevity in iPSCs.

Masotti A, Bertini E, Compagnucci C.

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

16.

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 May;56(5):692-8. doi: 10.1111/epi.12977. Epub 2015 Apr 3.

PMID:
25847462
17.

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 May;56(5):e53-7. doi: 10.1111/epi.12967. Epub 2015 Apr 3.

PMID:
25847220
18.

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 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26.

PMID:
25808502
19.

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 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. No abstract available.

PMID:
25778942
20.

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 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9.

PMID:
25755106
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