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Items: 20

1.

Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1.

Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekström AB, Sansone V, Tian C, Hellerstein L, Campbell C.

Neurol Clin Pract. 2019 Oct;9(5):443-454. doi: 10.1212/CPJ.0000000000000646. Review.

2.

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.

Higgs C, Hilbert JE, Wood L, Martens WB, Marini-Bettolo C, Nikolenko N, Alsaggaf R, Lochmüller H, Moxley RT, Greene MH, Wang Y, Gadalla SM.

Front Neurol. 2019 Oct 11;10:1071. doi: 10.3389/fneur.2019.01071. eCollection 2019.

3.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY.

J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25.

PMID:
31555977
4.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
5.

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.

Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L.

Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281. Epub 2018 Aug 29.

PMID:
30158155
6.

Survival patterns and cancer determinants in families with myotonic dystrophy type 1.

Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM.

Eur J Neurol. 2019 Jan;26(1):58-65. doi: 10.1111/ene.13763. Epub 2018 Sep 16.

7.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F.

J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3.

PMID:
29437916
8.

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Harris E, Marini-Bettolo C, Töpf A, Barresi R, Polvikoski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmüller H, Bushby K, Straub V.

Neuromuscul Disord. 2018 Jan;28(1):48-53. doi: 10.1016/j.nmd.2017.09.017. Epub 2017 Oct 12. Review.

PMID:
29128256
9.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
10.

Benign and malignant tumors in the UK myotonic dystrophy patient registry.

Alsaggaf R, Wang Y, Marini-Bettolo C, Wood L, Nikolenko N, Lochmüller H, Greene MH, Gadalla SM.

Muscle Nerve. 2018 Feb;57(2):316-320. doi: 10.1002/mus.25736. Epub 2017 Jul 24.

PMID:
28662292
11.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R.

Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4.

PMID:
28624464
12.

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmüller H, Evangelista T.

J Neurol. 2017 Jun;264(6):1271-1280. doi: 10.1007/s00415-017-8525-9. Epub 2017 May 26.

13.

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.

Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H.

J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.

14.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

15.

Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study.

West SD, Lochmüller H, Hughes J, Atalaia A, Marini-Bettolo C, Baudouin SV, Anderson KN.

J Neuromuscul Dis. 2016 Nov 29;3(4):529-537.

PMID:
27911338
16.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M.

Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5.

17.

Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England.

Van Ruiten HJ, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M.

Eur J Paediatr Neurol. 2016 Nov;20(6):904-909. doi: 10.1016/j.ejpn.2016.07.020. Epub 2016 Jul 30.

PMID:
27524390
18.

Myopathy secondary to intravascular large B-cell lymphoma.

Marini-Bettolo C, Lane R, Charles P, Naresh K, Nicholas R, Singh P, Cohen A, Mackie P, Roncaroli F.

Neuromuscul Disord. 2009 Dec;19(12):856-9. doi: 10.1016/j.nmd.2009.09.003. Epub 2009 Sep 29.

PMID:
19793654
19.

Case report of adult-onset Allgrove syndrome.

Gilio F, Di Rezze S, Conte A, Frasca V, Iacovelli E, Marini Bettolo C, Gabriele M, Giacomelli E, Pizzuti A, Pirro C, Fattapposta F, Habib FI, Prencipe M, Inghilleri M.

Neurol Sci. 2007 Dec;28(6):331-5. doi: 10.1007/s10072-007-0848-3. Epub 2008 Jan 4.

PMID:
18175081
20.

Topiramate and cortical excitability in humans: a study with repetitive transcranial magnetic stimulation.

Inghilleri M, Gilio F, Conte A, Frasca V, Marini Bettolo C, Iacovelli E, Gregori B, Prencipe M, Berardelli A.

Exp Brain Res. 2006 Oct;174(4):667-72. Epub 2006 Aug 5.

PMID:
16896986

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