Saredi S - Search Results

1

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mercuri E, et al. Among authors: saredi s. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310

2

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: saredi s. Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2. Neuromuscul Disord. 2008. PMID: 18513969

3

Congenital muscular dystrophies with cognitive impairment. A population study.

Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: saredi s. Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5. Neurology. 2010. PMID: 20820001

4

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. 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

5

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. Muscle Nerve. 2009 Jun;39(6):845-8. doi: 10.1002/mus.21271. Muscle Nerve. 2009. PMID: 19396839

6

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M. Saredi S, et al. J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2. J Neurol Sci. 2012. PMID: 22554691 Free PMC article.

7

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. 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

8

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. 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.

9

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Baranello G, Saredi S, Sansanelli S, Savadori P, Canioni E, Chiapparini L, Balestri P, Malandrini A, Arnoldi MT, Pantaleoni C, Morandi L, Mora M. Baranello G, et al. Among authors: saredi s. Neuromuscul Disord. 2015 Jan;25(1):55-9. doi: 10.1016/j.nmd.2014.08.007. Epub 2014 Sep 10. Neuromuscul Disord. 2015. PMID: 25444434

10

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.

Gibertini S, Ruggieri A, Saredi S, Salerno F, Blasevich F, Napoli L, Moggio M, Nigro V, Morandi L, Maggi L, Mora M. Gibertini S, et al. Among authors: saredi s. Acta Neuropathol Commun. 2018 Dec 19;6(1):141. doi: 10.1186/s40478-018-0648-4. Acta Neuropathol Commun. 2018. PMID: 30567601 Free PMC article. No abstract available.

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