Marini-Bettolo C - Search Results

1

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. Higgs C, et al. Front Neurol. 2019 Oct 11;10:1071. doi: 10.3389/fneur.2019.01071. eCollection 2019. Front Neurol. 2019. PMID: 31681146 Free PMC article.

2

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. Van Ruiten HJ, et al. Eur J Paediatr Neurol. 2016 Nov;20(6):904-909. doi: 10.1016/j.ejpn.2016.07.020. Epub 2016 Jul 30. Eur J Paediatr Neurol. 2016. PMID: 27524390

3

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. Vasli N, et al. Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. Brain. 2017. PMID: 27816943 Free PMC article.

4

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. West SD, et al. J Neuromuscul Dis. 2016 Nov 29;3(4):529-537. doi: 10.3233/JND-160191. J Neuromuscul Dis. 2016. PMID: 27911338

5

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. Wood L, et al. J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10. J Neurol. 2017. PMID: 28397002 Free PMC article.

6

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. Moreira S, et al. J Neurol. 2017 Jun;264(6):1271-1280. doi: 10.1007/s00415-017-8525-9. Epub 2017 May 26. J Neurol. 2017. PMID: 28550484 Free PMC article.

7

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. Harris E, et al. Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28624464

8

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. Alsaggaf R, et al. Muscle Nerve. 2018 Feb;57(2):316-320. doi: 10.1002/mus.25736. Epub 2017 Jul 24. Muscle Nerve. 2018. PMID: 28662292 Free PMC article.

9

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. Harris E, et al. Neuromuscul Disord. 2018 Jan;28(1):48-53. doi: 10.1016/j.nmd.2017.09.017. Epub 2017 Oct 12. Neuromuscul Disord. 2018. PMID: 29128256 Review.

10

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. Sarkozy A, et al. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3. J Neurol Neurosurg Psychiatry. 2018. PMID: 29437916

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