Gambardella A - Search Results

1

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Among authors: gambardella a. Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542. Nat Genet. 2000. PMID: 10802647

2

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M. Quattrone A, et al. Among authors: gambardella a. Neurology. 1996 May;46(5):1318-24. doi: 10.1212/wnl.46.5.1318. Neurology. 1996. PMID: 8628474

3

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.

Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Bolino A, et al. Among authors: gambardella a. Hum Mol Genet. 1996 Jul;5(7):1051-4. doi: 10.1093/hmg/5.7.1051. Hum Mol Genet. 1996. PMID: 8817346

4

Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome.

Gambardella A, Muglia M, Quattrone A. Gambardella A, et al. Brain. 1997 Nov;120 ( Pt 11):2113-5. doi: 10.1093/brain/120.11.2113. Brain. 1997. PMID: 9397025 No abstract available.

5

Treatment of palatal myoclonus with sumatriptan.

Gambardella A, Quattrone A. Gambardella A, et al. Mov Disord. 1998 Jan;13(1):195. doi: 10.1002/mds.870130145. Mov Disord. 1998. PMID: 9452358 No abstract available.

6

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A. Gambardella A, et al. Neurology. 1998 Mar;50(3):799-801. doi: 10.1212/wnl.50.3.799. Neurology. 1998. PMID: 9521281

7

MRI of skeletal muscles in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths.

Bono F, Gambardella A, Oliveri RL, Aguglia U, Zappia M, Tamburrini O, Quattrone A. Bono F, et al. Among authors: gambardella a. Eur Neurol. 1998;39(3):191-2. Eur Neurol. 1998. PMID: 9605401 No abstract available.

8

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

Gambardella A, Annesi G, Bono F, Spadafora P, Valentino P, Pasqua AA, Mazzei R, Montesanti R, Conforti FL, Oliveri RL, Zappia M, Aguglia U, Quattrone A. Gambardella A, et al. J Neurol. 1998 Oct;245(10):647-52. doi: 10.1007/s004150050261. J Neurol. 1998. PMID: 9776463

9

Hyperekplexia in a patient with a brainstem vascular anomaly.

Gambardella A, Valentino P, Annesi G, Oliveri RL, Bono F, Mazzei RL, Conforti FL, Aguglia U, Zappia M, Pardatscher K, Quattrone A. Gambardella A, et al. Acta Neurol Scand. 1999 Apr;99(4):255-9. doi: 10.1111/j.1600-0404.1999.tb07358.x. Acta Neurol Scand. 1999. PMID: 10225359

10

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bono F, Muglia M, Valentino P, Quattrone A. Gambardella A, et al. Ann N Y Acad Sci. 1999 Sep 14;883:47-55. Ann N Y Acad Sci. 1999. PMID: 10586229

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