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Associazione Malattie Rare "Mauro Baschirotto"

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__________________________________________________ LE PUBBLICAZIONI


GLI STUDI SCIENTIFICI PIU’ RECENTI SULLA MALATTIA DI LAFORA

1
Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.
Autori: Sanz P, Serratosa JM, Sànchez MP.
Rivista e Data: Int J Mol Sci. 2021 May 19;22(10):5351. doi: 10.3390/ijms22105351.

2
Biochemistry, Glycogenesis.
Autori: Patino SC, Mohiuddin SS.
Rivista e Data: 2021 May 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.

3
The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.
Autori: Markussen KH, Macedo JKA, Machìo M, Dolce A, Goldberg YP, Vander Kooi CW, Gentry MS.
Rivista e Data: Epilepsy Behav. 2021 Jun;119:107975. doi: 10.1016/j.yebeh.2021.107975. Epub 2021 May 1.

4
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.
Autori: Kumarasinghe L, Xiong L, Garcia-Gimeno MA, Lazzari E, Sanz P, Meroni G.
Rivista e Data: Cells. 2021 Apr 6;10(4):820. doi: 10.3390/cells10040820.

5
Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature.
Autori: Assenza G, Nocerino C, Tombini M, Di Gennaro G, D’Aniello A, Verrotti A, Marrelli A, Ricci L, Lanzone J, Di Lazzaro V, Bilo L, Coppola A.
Rivista e Data: Front Neurol. 2021 Mar 24;12:630366. doi: 10.3389/fneur.2021.630366. eCollection 2021.

6
Lafora Disease.
Autori: Ibrahim F, Murr N.
Rivista e Data: 2020 Sep 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.

7
Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.
Autori: Sanz P, Serratosa JM.
Rivista e Data: Expert Rev Mol Med. 2020 Sep 17;22:e4. doi: 10.1017/erm.2020.5.

8
Autophagy and Epilepsy.
Autori: Lv M, Ma Q.
Rivista e Data: Adv Exp Med Biol. 2020;1207:163-169. doi: 10.1007/978-981-15-4272-5_10.

9
Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.
Autori: Kundap UP, Paudel YN, Shaikh MF.
Rivista e Data: Pharmaceuticals (Basel). 2020 May 26;13(6):106. doi: 10.3390/ph13060106.

10
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
Autori: Espinòs C, Galindo MI, Garcìa-Gimeno MA, Ibàñez-Cabellos JS, Martìnez-Rubio D, Millàn JM, Rodrigo R, Sanz P, Seco-Cervera M, Sevilla T, Tapia A, Pallardò FV.
Rivista e Data: Antioxidants (Basel). 2020 Apr 15;9(4):313. doi: 10.3390/antiox9040313.

11
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.
Autori: Gentry MS, Afawi Z, Armstrong DD, Delgado-Escueta A, Goldberg YP, Grossman TR, Guinovart JJ, Harris F, Hurley TD, Michelucci R, Minassian BA, Sanz P, Worby CA, Serratosa JM.
Rivista e Data: Epilepsy Behav. 2020 Feb;103(Pt A):106839. doi: 10.1016/j.yebeh.2019.106839. Epub 2020 Jan 10.

12
FDG-PET assessment and metabolic patterns in Lafora disease.
Autori: Muccioli L, Farolfi A, Pondrelli F, d’Orsi G, Michelucci R, Freri E, Canafoglia L, Licchetta L, Toni F, Bonfiglioli R, Civollani S, Pettinato C, Maietti E, Marotta G, Fanti S, Tinuper P, Bisulli F.
Rivista e Data: Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1576-1584. doi: 10.1007/s00259-019-04647-3. Epub 2019 Dec 19.

13
Links between autophagy and disorders of glycogen metabolism – Perspectives on pathogenesis and possible treatments.
Autori: Farah BL, Yen PM, Koeberl DD.
Rivista e Data: Mol Genet Metab. 2020 Jan;129(1):3-12. doi: 10.1016/j.ymgme.2019.11.005. Epub 2019 Nov 21.

14
Glycogen in Astrocytes and Neurons: Physiological and Pathological Aspects.
Autori: Duran J, Gruart A, Lòpez-Ramos JC, Delgado-Garcìa JM, Guinovart JJ.
Rivista e Data: Adv Neurobiol. 2019;23:311-329. doi: 10.1007/978-3-030-27480-1_10.

15
Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future.
Autori: Brewer MK, Gentry MS.
Rivista e Data: Adv Neurobiol. 2019;23:17-81. doi: 10.1007/978-3-030-27480-1_2.

16
Major Advances in Brain Glycogen Research: Understanding of the Roles of Glycogen Have Evolved from Emergency Fuel Reserve to Dynamic, Regulated Participant in Diverse Brain Functions.
Autori: Dienel GA, Carlson GM.
Rivista e Data: Adv Neurobiol. 2019;23:1-16. doi: 10.1007/978-3-030-27480-1_1.

17
Biomedical Implications of Autophagy in Macromolecule Storage Disorders.
Autori: Palhegyi AM, Seranova E, Dimova S, Hoque S, Sarkar S.
Rivista e Data: Front Cell Dev Biol. 2019 Sep 6;7:179. doi: 10.3389/fcell.2019.00179. eCollection 2019.

18
Antibody-Mediated Enzyme Therapeutics and Applications in Glycogen Storage Diseases.
Autori: Zhou Z, Austin GL, Shaffer R, Armstrong DD, Gentry MS.
Rivista e Data: Trends Mol Med. 2019 Dec;25(12):1094-1109. doi: 10.1016/j.molmed.2019.08.005. Epub 2019 Sep 12.

19
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Autori: Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P.
Rivista e Data: Seizure. 2019 Oct;71:247-257. doi: 10.1016/j.seizure.2019.08.012. Epub 2019 Aug 23.

20
Update on polyglucosan storage diseases.
Autori: Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C.
Rivista e Data: Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30.

21
[Lafora disease: a review of the literature].
Autori: Desdentado L, Espert R, Sanz P, Tirapu-Ustarroz J.
Rivista e Data: Rev Neurol. 2019 Jan 16;68(2):66-74.

22
Progressive Myoclonus Epilepsy, Lafora Type.
Autori: Jansen AC, Andermann E.
Rivista e Data: 2007 Dec 28 [updated 2019 Feb 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.

 

 

QUADERNI SULLE MALATTIE RARE
Caro scricciolo
Caro Scricciolo - Elena Spaccamonti
Una vita impossibile
Una Vita Impossibile - Paola Mazzuchi Cargiolli
La speranza è un fiore di campo
La speranza è un fiore di campo - Francesco Boni
La Leggenda di Fra Jacopo
La leggenda di Fra Jacopo - Paola Mazzuchi Cargiolli
Come Simone
Come Simone - Paola Mazzuchi Cargiolli
   
PUBBLICAZIONI SCIENTIFICHE
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Associazione Malattie Rare Associazione Malattie Rare "Mauro Baschirotto"
Costozza  Vicenza - Italy 
Tel. Fax. +39 0444 555557 http://www.baschirotto.com
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