Bertini E - Search Results

1

Age-related sensory neuropathy in patients with spinal muscular atrophy type 1.

Pro S, Tozzi AE, D'Amico A, Catteruccia M, Cherchi C, De Luca M, Nicita F, Diodato D, Cutrera R, Bertini E, Valeriani M. Pro S, et al. Among authors: bertini e. Muscle Nerve. 2021 Nov;64(5):599-603. doi: 10.1002/mus.27389. Epub 2021 Aug 23. Muscle Nerve. 2021. PMID: 34368972

2

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

Bertini E, Gadisseux JL, Palmieri G, Ricci E, Di Capua M, Ferriere G, Lyon G. Bertini E, et al. Am J Med Genet. 1989 Jul;33(3):328-35. doi: 10.1002/ajmg.1320330309. Am J Med Genet. 1989. PMID: 2801766

3

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findings.

Restuccia D, Di Lazzaro V, Valeriani M, Oliviero A, Le Pera D, Barba C, Cappa M, Bertini E, Tonali P. Restuccia D, et al. Among authors: bertini e. Muscle Nerve. 1997 Oct;20(10):1249-57. doi: 10.1002/(sici)1097-4598(199710)20:10<1249::aid-mus7>3.0.co;2-c. Muscle Nerve. 1997. PMID: 9324081

4

Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy.

Restuccia D, Di Lazzaro V, Valeriani M, Oliviero A, Le Pera D, Barba C, Cappa M, Bertini E, Di Capua M, Tonali P. Restuccia D, et al. Among authors: bertini e. Neurology. 1999 Mar 10;52(4):810-6. doi: 10.1212/wnl.52.4.810. Neurology. 1999. PMID: 10078732

5

Pilot trial of phenylbutyrate in spinal muscular atrophy.

Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Mercuri E, et al. Among authors: bertini e. Neuromuscul Disord. 2004 Feb;14(2):130-5. doi: 10.1016/j.nmd.2003.11.006. Neuromuscul Disord. 2004. PMID: 14733959 Clinical Trial.

6

Motor function-muscle strength relationship in spinal muscular atrophy.

Merlini L, Bertini E, Minetti C, Mongini T, Morandi L, Angelini C, Vita G. Merlini L, et al. Among authors: bertini e. Muscle Nerve. 2004 Apr;29(4):548-52. doi: 10.1002/mus.20018. Muscle Nerve. 2004. PMID: 15052620

7

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S. D'Amico A, et al. Among authors: bertini e. Neurology. 2004 Jun 8;62(11):2138-9. doi: 10.1212/01.wnl.0000127698.88895.85. Neurology. 2004. PMID: 15184642 No abstract available.

8

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.

Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R. Guenther UP, et al. Among authors: bertini e. Hum Genet. 2004 Sep;115(4):319-26. doi: 10.1007/s00439-004-1156-0. Hum Genet. 2004. PMID: 15290238

9

Acute quadriplegic myopathy in a 16-month-old child.

Iodice F, Salzano M, Prosperi M, D' Amico A, Lauri A, Bertini E. Iodice F, et al. Among authors: bertini e. Paediatr Anaesth. 2005 Jul;15(7):611-5. doi: 10.1111/j.1460-9592.2005.01491.x. Paediatr Anaesth. 2005. PMID: 15960648

10

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. D'Amico A, et al. Among authors: bertini e. Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006. Neuromuscul Disord. 2005. PMID: 15961312

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