Di Capua M - Search Results

1

Respiratory chain defects in hereditary spastic paraplegias.

Piemonte F, Casali C, Carrozzo R, Schägger H, Patrono C, Tessa A, Tozzi G, Cricchi F, Di Capua M, Siciliano G, Amabile GA, Morocutti C, Bertini E, Santorelli FM. Piemonte F, et al. Among authors: di capua m. Neuromuscul Disord. 2001 Sep;11(6-7):565-9. doi: 10.1016/s0960-8966(01)00214-0. Neuromuscul Disord. 2001. PMID: 11525886

2

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.

Olivieri G, Pro S, Diodato D, Di Capua M, Longo D, Martinelli D, Bertini E, Dionisi-Vici C. Olivieri G, et al. Among authors: di capua m. Orphanet J Rare Dis. 2019 Aug 23;14(1):208. doi: 10.1186/s13023-019-1181-7. Orphanet J Rare Dis. 2019. PMID: 31443672 Free PMC article.

3

Remission in dihydroxyphenylalanine-responsive dystonia.

Di Capua M, Bertini E. Di Capua M, et al. Mov Disord. 1995 Mar;10(2):223. doi: 10.1002/mds.870100216. Mov Disord. 1995. PMID: 7753067 No abstract available.

4

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: di capua m. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

5

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C. Salvi S, et al. Among authors: di capua m. Neurology. 2001 Sep 11;57(5):911-4. doi: 10.1212/wnl.57.5.911. Neurology. 2001. PMID: 11552031

6

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Eymard-Pierre E, et al. Among authors: di capua m. Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145748 Free PMC article.

7

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome.

Bertini E, Sabatelli M, Di Capua M, Cilio MR, Mignogna T, Federico A, Tonali P. Bertini E, et al. Among authors: di capua m. Eur J Paediatr Neurol. 1998;2(5):245-54. doi: 10.1016/s1090-3798(98)80038-x. Eur J Paediatr Neurol. 1998. PMID: 10726827 Review.

8

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Lesca G, et al. Among authors: di capua m. Neurology. 2003 Feb 25;60(4):674-82. doi: 10.1212/01.wnl.0000048207.28790.25. Neurology. 2003. PMID: 12601111

9

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. Among authors: di capua m. Am J Med Genet. 1989 Jul;33(3):328-35. doi: 10.1002/ajmg.1320330309. Am J Med Genet. 1989. PMID: 2801766

10

Bilateral, reversible, selective thalamic involvement demonstrated by brain MR and acute severe neurological dysfunction with favorable outcome.

Cusmai R, Bertini E, Di Capua M, Ricci S, Vigevano F, Milani L, Fariello G. Cusmai R, et al. Among authors: di capua m. Neuropediatrics. 1994 Feb;25(1):44-7. doi: 10.1055/s-2008-1071582. Neuropediatrics. 1994. PMID: 8208352

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

82 results

Search Page

Filters