Mora M - Search Results

1

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.

Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC. Cauley ES, et al. Among authors: mora m. Mol Genet Genomic Med. 2020 Nov;8(11):e1387. doi: 10.1002/mgg3.1387. Epub 2020 Sep 16. Mol Genet Genomic Med. 2020. PMID: 32936536 Free PMC article.

2

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.

Saredi S, Cauley ES, Ruggieri A, Spivey TM, Ardissone A, Mora M, Moroni I, Manzini MC. Saredi S, et al. Among authors: mora m. Muscle Nerve. 2020 Aug;62(2):266-271. doi: 10.1002/mus.26907. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32363625 Free PMC article.

3

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Osborn DPS, et al. Among authors: mora m. Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190459 Free PMC article.

4

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

Saredi S, Gibertini S, Matalonga L, Farina L, Ardissone A, Moroni I, Mora M. Saredi S, et al. Among authors: mora m. Neuromuscul Disord. 2019 May;29(5):376-380. doi: 10.1016/j.nmd.2019.04.001. Epub 2019 Apr 10. Neuromuscul Disord. 2019. PMID: 31040037

5

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

6

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, Morandi L, Mora M, Moroni I. Saredi S, et al. Among authors: mora m. Muscle Nerve. 2009 Jun;39(6):845-8. doi: 10.1002/mus.21271. Muscle Nerve. 2009. PMID: 19396839

7

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. Di Costanzo S, et al. Among authors: mora m. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11. Hum Mol Genet. 2014. PMID: 24925318 Free PMC article.

8

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients.

Farina L, Morandi L, Milanesi I, Ciceri E, Mora M, Moroni I, Pantaleoni C, Savoiardo M. Farina L, et al. Among authors: mora m. Neuroradiology. 1998 Dec;40(12):807-11. doi: 10.1007/s002340050689. Neuroradiology. 1998. PMID: 9877136

9

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

Saredi S, Gibertini S, Ardissone A, Fusco I, Zanotti S, Blasevich F, Morandi L, Moroni I, Mora M. Saredi S, et al. Among authors: mora m. Eur J Paediatr Neurol. 2014 May;18(3):404-8. doi: 10.1016/j.ejpn.2013.10.005. Epub 2013 Oct 27. Eur J Paediatr Neurol. 2014. PMID: 24183756

10

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.

Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M. Ardissone A, et al. Among authors: mora m. BMC Med Genet. 2013 Sep 11;14:89. doi: 10.1186/1471-2350-14-89. BMC Med Genet. 2013. PMID: 24024685 Free PMC article.

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