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Items: 1 to 50 of 323

1.

High-frequency temperature pulse-response behavior through a porous nanocomposite scaffold for measuring the uptake of biological fluids.

Minetti C, Iorio CS, Machrafi H.

Math Biosci Eng. 2019 May 29;16(5):4873-4884. doi: 10.3934/mbe.2019245.

2.

Novel TRIM32 mutation in sarcotubular myopathy.

Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C.

Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar.

3.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

4.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Scala M, Brigati G, Fiorillo C, Nesti C, Rubegni A, Pedemonte M, Bruno C, Severino M, Derchi M, Minetti C, Santorelli FM.

Neurogenetics. 2019 Aug;20(3):165-172. doi: 10.1007/s10048-019-00582-5. Epub 2019 Jul 2.

PMID:
31267352
5.

Microbiota-gut brain axis involvement in neuropsychiatric disorders.

Iannone LF, Preda A, Blottière HM, Clarke G, Albani D, Belcastro V, Carotenuto M, Cattaneo A, Citraro R, Ferraris C, Ronchi F, Luongo G, Santocchi E, Guiducci L, Baldelli P, Iannetti P, Pedersen S, Petretto A, Provasi S, Selmer K, Spalice A, Tagliabue A, Verrotti A, Segata N, Zimmermann J, Minetti C, Mainardi P, Giordano C, Sisodiya S, Zara F, Russo E, Striano P.

Expert Rev Neurother. 2019 Oct;19(10):1037-1050. doi: 10.1080/14737175.2019.1638763. Epub 2019 Jul 11.

PMID:
31260640
6.

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Scala M, Amadori E, Fusco L, Marchese F, Capra V, Minetti C, Vari MS, Striano P.

Eur J Paediatr Neurol. 2019 Jul;23(4):657-661. doi: 10.1016/j.ejpn.2019.05.011. Epub 2019 May 24.

PMID:
31176596
7.

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Scala M, Traverso M, Capra V, Vari MS, Severino M, Grossi S, Zara F, Striano P, Minetti C.

Neuropediatrics. 2019 Aug;50(4):268-270. doi: 10.1055/s-0039-1688954. Epub 2019 May 28. No abstract available.

PMID:
31137068
8.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

9.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T.

Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4.

PMID:
30719712
10.

Elimination within reach: A cross-sectional study highlighting the factors that contribute to persistent lymphatic filariasis in eight communities in rural Ghana.

Minetti C, Tettevi EJ, Mechan F, Prada JM, Idun B, Biritwum NK, Osei-Atweneboana MY, Reimer LJ.

PLoS Negl Trop Dis. 2019 Jan 4;13(1):e0006994. doi: 10.1371/journal.pntd.0006994. eCollection 2019 Jan.

11.

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E.

Am J Med Genet A. 2019 Feb;179(2):317-321. doi: 10.1002/ajmg.a.61006. Epub 2018 Dec 18.

PMID:
30561154
12.

Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features.

Moneta GM, Pires Marafon D, Marasco E, Rosina S, Verardo M, Fiorillo C, Minetti C, Bracci-Laudiero L, Ravelli A, De Benedetti F, Nicolai R.

Arthritis Rheumatol. 2019 Jun;71(6):1011-1021. doi: 10.1002/art.40800. Epub 2019 Apr 30.

PMID:
30552836
13.

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.

Gazzerro E, Baratto S, Assereto S, Baldassari S, Panicucci C, Raffaghello L, Scudieri P, De Battista D, Fiorillo C, Volpi S, Chaabane L, Malnati M, Messina G, Bruzzone S, Traggiai E, Grassi F, Minetti C, Bruno C.

Am J Pathol. 2019 Feb;189(2):354-369. doi: 10.1016/j.ajpath.2018.10.008. Epub 2018 Nov 16.

PMID:
30448410
14.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

15.

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.

Fiorillo C, D'Apice MR, Trucco F, Murdocca M, Spitalieri P, Assereto S, Baratto S, Morcaldi G, Minetti C, Sangiuolo F, Novelli G.

DNA Cell Biol. 2018 Nov 2. doi: 10.1089/dna.2018.4335. [Epub ahead of print]

PMID:
30388038
16.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V.

Genes (Basel). 2018 Oct 26;9(11). pii: E524. doi: 10.3390/genes9110524.

17.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

18.

Magnesium Activates Microsecond Dynamics to Regulate Integrin-Collagen Recognition.

Nunes AM, Minetti CASA, Remeta DP, Baum J.

Structure. 2018 Aug 7;26(8):1080-1090.e5. doi: 10.1016/j.str.2018.05.010. Epub 2018 Jun 21.

19.

An assessment of mosquito collection techniques for xenomonitoring of anopheline-transmitted Lymphatic Filariasis in Ghana.

Opoku M, Minetti C, Kartey-Attipoe WD, Otoo S, Otchere J, Gomes B, de Souza DK, Reimer LJ.

Parasitology. 2018 Nov;145(13):1783-1791. doi: 10.1017/S0031182018000938. Epub 2018 Jun 14.

20.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.

Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9.

PMID:
29880332
21.

Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial.

Trucco F, Pedemonte M, Racca F, Falsaperla R, Romano C, Wenzel A, D'Agostino A, Pistorio A, Tacchetti P, Bella C, Bruno C, Minetti C.

J Telemed Telecare. 2019 Aug;25(7):414-424. doi: 10.1177/1357633X18778479. Epub 2018 Jun 4.

PMID:
29865934
22.

A superhydrophobic cone to facilitate the xenomonitoring of filarial parasites, malaria, and trypanosomes using mosquito excreta/feces.

Cook DAN, Pilotte N, Minetti C, Williams SA, Reimer LJ.

Version 2. Gates Open Res. 2018 Apr 27 [revised 2018 Jan 1];1:7. doi: 10.12688/gatesopenres.12749.2. eCollection 2017.

23.

Erratum to "De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy" [Seizure 57 (2018) 63-65].

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Striano P, Minetti C, Zara F.

Seizure. 2018 Apr;57:R1. doi: 10.1016/j.seizure.2018.04.003. No abstract available.

24.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Stella Vari M, Traverso M, Bellini T, Madia F, Pinto F, Striano P, Minetti C, Zara F.

Seizure. 2018 Apr;57:63-65. doi: 10.1016/j.seizure.2018.02.011. Epub 2018 Mar 2. Retraction in: Seizure. 2018 Apr;57:R1.

25.

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C.

J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19.

PMID:
29556034
26.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V.

JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. Erratum in: JAMA Neurol. 2018 Nov 1;75(11):1443.

27.

Impact of bistrand abasic sites and proximate orientation on DNA global structure and duplex energetics.

Minetti CA, Sun JY, Jacobs DP, Kang I, Remeta DP, Breslauer KJ.

Biopolymers. 2018 Aug;109(8):e23098. doi: 10.1002/bip.23098. Epub 2018 Jan 11.

28.

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F.

Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18.

PMID:
29307700
29.

Detection of early nocturnal hypoventilation in neuromuscular disorders.

Trucco F, Pedemonte M, Fiorillo C, Tan HL, Carlucci A, Brisca G, Tacchetti P, Bruno C, Minetti C.

J Int Med Res. 2018 Mar;46(3):1153-1161. doi: 10.1177/0300060517728857. Epub 2017 Dec 6.

30.

Congenital myopathies: clinical phenotypes and new diagnostic tools.

Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies.

Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Review.

31.

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F.

Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. No abstract available.

32.

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
33.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Minetti C, Striano P, Zara F.

Seizure. 2017 Aug;50:80-82. doi: 10.1016/j.seizure.2017.06.011. Epub 2017 Jun 15.

34.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, Pedemonte M, Lanteri P, Sciarretta L, Minetti C, Santorelli FM, Bruno C.

JIMD Rep. 2018;38:23-31. doi: 10.1007/8904_2017_25. Epub 2017 Apr 30.

35.

Respiratory pattern in a FSDH paediatric population.

Trucco F, Pedemonte M, Fiorillo C, Tacchetti P, Brisca G, Bruno C, Minetti C.

Respir Med. 2017 May;126:132. doi: 10.1016/j.rmed.2017.03.023. Epub 2017 Mar 29. No abstract available.

36.

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

Minoia F, Bertamino M, Picco P, Severino M, Rossi A, Fiorillo C, Minetti C, Nesti C, Santorelli FM, Di Rocco M.

JIMD Rep. 2017;37:37-43. doi: 10.1007/8904_2017_9. Epub 2017 Mar 1.

37.

Inflammatory myopathy in a patient with collagen VI mutations.

Papa R, Fiorillo C, Malattia C, Minoia F, Caorsi R, Assereto S, Iacomino M, Savarese M, Nigro V, Bruno C, Minetti C, Picco P.

Scand J Rheumatol. 2018 Mar;47(2):166-167. doi: 10.1080/03009742.2016.1274423. Epub 2017 Jan 18. No abstract available.

PMID:
28097933
38.

Giardiasis.

Minetti C, Chalmers RM, Beeching NJ, Probert C, Lamden K.

BMJ. 2016 Oct 27;355:i5369. doi: 10.1136/bmj.i5369. Review. No abstract available.

PMID:
27789441
39.

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.

40.

Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy.

Striano P, Belcastro V, Coppola A, Minetti C, Striano S.

Clin Neuropharmacol. 2016 Nov/Dec;39(6):281-287. Review.

PMID:
27753696
41.

Respiratory pattern in a FSHD pediatric population.

Trucco F, Pedemonte M, Fiorillo C, Tacchetti P, Brisca G, Bruno C, Minetti C.

Respir Med. 2016 Oct;119:78-80. doi: 10.1016/j.rmed.2016.08.014. Epub 2016 Aug 22.

42.

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Covone AE, Fiorillo C, Acquaviva M, Trucco F, Morana G, Ravazzolo R, Minetti C.

Clin Genet. 2016 Aug;90(2):182-5. doi: 10.1111/cge.12730. Epub 2016 Feb 10.

PMID:
27406698
43.

Heat Shock Protein 90 kDa (Hsp90) Has a Second Functional Interaction Site with the Mitochondrial Import Receptor Tom70.

Zanphorlin LM, Lima TB, Wong MJ, Balbuena TS, Minetti CA, Remeta DP, Young JC, Barbosa LR, Gozzo FC, Ramos CH.

J Biol Chem. 2016 Sep 2;291(36):18620-31. doi: 10.1074/jbc.M115.710137. Epub 2016 Jul 8.

44.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies.

Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

45.

Intrinsic local destabilization of the C-terminus predisposes integrin α1 I domain to a conformational switch induced by collagen binding.

Nunes AM, Zhu J, Jezioro J, Minetti CA, Remeta DP, Farndale RW, Hamaia SW, Baum J.

Protein Sci. 2016 Sep;25(9):1672-81. doi: 10.1002/pro.2972. Epub 2016 Aug 1.

46.

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.

Assereto S, Piccirillo R, Baratto S, Scudieri P, Fiorillo C, Massacesi M, Traverso M, Galietta LJ, Bruno C, Minetti C, Zara F, Gazzerro E.

Lab Invest. 2016 Aug;96(8):862-71. doi: 10.1038/labinvest.2016.63. Epub 2016 Jun 13.

47.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Erratum in: Neurology. 2018 Jun 5;90(23):1084. Neurology. 2019 Aug 20;93(8):371.

48.

White matter involvement in a family with a novel PDGFB mutation.

Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F.

Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun.

49.

Digital holographic microscopy as a tool to study the thermal shape fluctuations of lipid vesicles.

Minetti C, Vitkova V, Dubois F, Bivas I.

Opt Lett. 2016 Apr 15;41(8):1833-6. doi: 10.1364/OL.41.001833.

PMID:
27082357
50.

Novel GABRG2 mutations cause familial febrile seizures.

Boillot M, Morin-Brureau M, Picard F, Weckhuysen S, Lambrecq V, Minetti C, Striano P, Zara F, Iacomino M, Ishida S, An-Gourfinkel I, Daniau M, Hardies K, Baulac M, Dulac O, Leguern E, Nabbout R, Baulac S.

Neurol Genet. 2015 Nov 4;1(4):e35. doi: 10.1212/NXG.0000000000000035. eCollection 2015 Dec.

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