Bertini E - Search Results

1

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. Nicita F, et al. Among authors: bertini e. Parkinsonism Relat Disord. 2016 Sep;30:81-2. doi: 10.1016/j.parkreldis.2016.05.029. Epub 2016 Jun 1. Parkinsonism Relat Disord. 2016. PMID: 27268479 No abstract available.

2

Epilepsia partialis continua and neuronal migration anomalies.

Fusco L, Bertini E, Vigevano F. Fusco L, et al. Among authors: bertini e. Brain Dev. 1992 Sep;14(5):323-8. doi: 10.1016/s0387-7604(12)80152-5. Brain Dev. 1992. PMID: 1456388

3

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Bertini E, et al. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

4

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. Dionisi Vici C, et al. Among authors: bertini e. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102. Am J Med Genet. 1988. PMID: 3344762

5

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: bertini e. Neuropediatrics. 1994 Feb;25(1):44-7. doi: 10.1055/s-2008-1071582. Neuropediatrics. 1994. PMID: 8208352

6

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

7

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

8

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: bertini e. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

9

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: bertini e. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.

10

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG. Brancati F, et al. Among authors: bertini e. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Am J Hum Genet. 2007. PMID: 17564967 Free PMC article.

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