Lamba LD - Search Results

1

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LD, Bado M, Greco M, Zeviani M, Minetti C. Bruno C, et al. Among authors: lamba ld. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

2

Phenotypic characterization of hypomyelination and congenital cataract.

Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Among authors: lamba ld. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097

3

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.

Bruno C, DiRocco M, Lamba LD, Bado M, Marino C, Tsujino S, Shanske S, Stella G, Minetti C, van Diggelen OP, DiMauro S. Bruno C, et al. Among authors: lamba ld. Neuromuscul Disord. 1999 Oct;9(6-7):403-7. doi: 10.1016/s0960-8966(99)00040-1. Neuromuscul Disord. 1999. PMID: 10545044

4

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.

Di Rocco M, Lamba LD, Minniti G, Caruso U, Naito E. Di Rocco M, et al. Among authors: lamba ld. Eur J Paediatr Neurol. 2000;4(3):115-7. doi: 10.1053/ejpn.2000.0278. Eur J Paediatr Neurol. 2000. PMID: 10872106

5

Childhood thalidomide neuropathy: a clinical and neurophysiologic study.

Priolo T, Lamba LD, Giribaldi G, De Negri E, Grosso P, De Grandis E, Veneselli E, Buoncompagni A, Viola S, Alpigiani MG, Gandullia P, Calevo MG. Priolo T, et al. Among authors: lamba ld. Pediatr Neurol. 2008 Mar;38(3):196-9. doi: 10.1016/j.pediatrneurol.2007.11.004. Pediatr Neurol. 2008. PMID: 18279755 Clinical Trial.

6

Long-lasting myopathy as a major clinical feature of sarcoidosis in a child: case report with a 7-year follow-up.

Rossi GA, Battistini E, Celle ME, Lamba LD, Pessagno A, Gambini C, Veneselli E. Rossi GA, et al. Among authors: lamba ld. Sarcoidosis Vasc Diffuse Lung Dis. 2001 Jun;18(2):196-200. Sarcoidosis Vasc Diffuse Lung Dis. 2001. PMID: 11436541

7

Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.

Lamba LD, Ciotti P, Giribaldi G, Di Maria E, Varese A, Di Stadio M, Schenone A, Mandich P, Bellone E. Lamba LD, et al. Eur Neurol. 2009;61(4):240-3. doi: 10.1159/000198417. Epub 2009 Jan 31. Eur Neurol. 2009. PMID: 19182486 Free article. No abstract available.

8

[The Guillain-Barré syndrome. The clinico-electrophysiological correlations].

Carlizzi MN, Lamba LD, Ravera G, Veneselli E, Bartoli D, Cottafava F. Carlizzi MN, et al. Among authors: lamba ld. Minerva Pediatr. 1991 Jun;43(6):445-52. Minerva Pediatr. 1991. PMID: 1886529 Italian.

9

Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease.

Bellone E, Mandich P, James R, Nelis E, Lamba LD, Van Broeckhoven C, Ajmar F. Bellone E, et al. Among authors: lamba ld. Hum Mutat. 1996;7(4):377-8. doi: 10.1002/humu.1380070403. Hum Mutat. 1996. PMID: 8723697 No abstract available.

10

Reversible vincristine-related flaccid paralysis in a child with acute lymphoblastic leukemia.

Fioredda F, Micalizzi C, Lanciotti M, Dufour C, Lamba LD, Fiocchi I. Fioredda F, et al. Among authors: lamba ld. Med Pediatr Oncol. 2002 Aug;39(2):141-2. doi: 10.1002/mpo.10072. Med Pediatr Oncol. 2002. PMID: 12116067 No abstract available.

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