Aguennouz M - Search Results

1

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.

Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A. Musumeci O, et al. Among authors: aguennouz m. Neuromuscul Disord. 2007 Dec;17(11-12):960-3. doi: 10.1016/j.nmd.2007.05.002. Epub 2007 Jul 24. Neuromuscul Disord. 2007. PMID: 17651973

2

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A. Musumeci O, et al. Among authors: aguennouz m. Neuromuscul Disord. 2005 Jun;15(6):409-11. doi: 10.1016/j.nmd.2005.02.008. Epub 2005 Apr 19. Neuromuscul Disord. 2005. PMID: 15907287

3

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, Rodolico C, Prelle A, Sironi M, Aguennouz M, Ciscato P, Uncini A, Moggio M, Bresolin N, Comi GP. Cagliani R, et al. Among authors: aguennouz m. Hum Mutat. 2005 Sep;26(3):283. doi: 10.1002/humu.9364. Hum Mutat. 2005. PMID: 16100712

4

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Guglieri M, et al. Among authors: aguennouz m. Hum Mutat. 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. Hum Mutat. 2008. PMID: 17994539

5

Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity.

Sabbatini AR, Toscano A, Aguennouz M, Martini D, Polizzi E, Ranieri-Raggi M, Moir AJ, Migliorato A, Musumeci O, Vita G, Raggi A. Sabbatini AR, et al. Among authors: aguennouz m. J Muscle Res Cell Motil. 2006;27(1):83-92. doi: 10.1007/s10974-006-9059-4. Epub 2006 Mar 29. J Muscle Res Cell Motil. 2006. PMID: 16570231

6

Calpain 3 deficiency in Quail Eater's disease.

Musumeci O, Aguennouz M, Cagliani R, Comi GP, Ciranni A, Rodolico C, Messina C, Vita G, Toscano A. Musumeci O, et al. Among authors: aguennouz m. Ann Neurol. 2004 Jan;55(1):146-7. doi: 10.1002/ana.10821. Ann Neurol. 2004. PMID: 14705129 No abstract available.

7

Immunolocalization and activation of transcription factor nuclear factor kappa B in dysimmune neuropathies and familial amyloidotic polyneuropathy.

Mazzeo A, Aguennouz M, Messina C, Vita G. Mazzeo A, et al. Among authors: aguennouz m. Arch Neurol. 2004 Jul;61(7):1097-102. doi: 10.1001/archneur.61.7.1097. Arch Neurol. 2004. PMID: 15262741

8

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.

Di Rosa G, Pustorino G, Spano M, Campion D, Calabrò M, Aguennouz M, Caccamo D, Legallic S, Sgro DL, Bonsignore M, Tortorella G. Di Rosa G, et al. Among authors: aguennouz m. Psychiatr Genet. 2008 Feb;18(1):40-2. doi: 10.1097/YPG.0b013e3282f08a3d. Psychiatr Genet. 2008. PMID: 18197084

9

Nuclear factor-kappab activation is associated with glutamate-evoked tissue transglutaminase up-regulation in primary astrocyte cultures.

Caccamo D, Campisi A, Currò M, Aguennouz M, Li Volti G, Avola R, Ientile R. Caccamo D, et al. Among authors: aguennouz m. J Neurosci Res. 2005 Dec 15;82(6):858-65. doi: 10.1002/jnr.20683. J Neurosci Res. 2005. PMID: 16273541

10

Autoimmunity to heterogeneous nuclear ribonucleoprotein A1 in psoriatic patients and correlation with disease severity.

Guarneri C, Aguennouz M, Guarneri F, Polito F, Benvenga S, Cannavò SP. Guarneri C, et al. Among authors: aguennouz m. J Dtsch Dermatol Ges. 2018 Sep;16(9):1103-1107. doi: 10.1111/ddg.13631. J Dtsch Dermatol Ges. 2018. PMID: 30179318

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