Bado M - Search Results

1

Congenital hypomyelination due to myelin protein zero Q215X mutation.

Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A. Mandich P, et al. Among authors: bado m. Ann Neurol. 1999 May;45(5):676-8. doi: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k. Ann Neurol. 1999. PMID: 10319895

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: bado m. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097

3

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E. Di Maria E, et al. Among authors: bado m. J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1495-8. doi: 10.1136/jnnp.2003.028100. J Neurol Neurosurg Psychiatry. 2004. PMID: 15377708 Free PMC article.

4

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency.

Minetti C, Bado M, Morreale G, Pedemonte M, Cordone G. Minetti C, et al. Among authors: bado m. Neurology. 1996 May;46(5):1354-8. doi: 10.1212/wnl.46.5.1354. Neurology. 1996. PMID: 8628482

5

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Carbone I, et al. Among authors: bado m. Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373. Neurology. 2000. PMID: 10746614

6

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Among authors: bado m. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297

7

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: bado m. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

8

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.

Di Rocco M, Leveratto L, Cama A, Bado M, Tortori Donati P, Andreussi L, Borrone C. Di Rocco M, et al. Among authors: bado m. Genet Couns. 1993;4(4):295-8. Genet Couns. 1993. PMID: 8110418

9

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.

Bruno C, Bado M, Minetti C, Cordone G, DiMauro S. Bruno C, et al. Among authors: bado m. J Child Neurol. 2000 Jun;15(6):390-3. doi: 10.1177/088307380001500607. J Child Neurol. 2000. PMID: 10868782

10

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.

Bruno C, Sacco O, Santorelli FM, Assereto S, Tonoli E, Bado M, Rossi GA, Minetti C. Bruno C, et al. Among authors: bado m. J Child Neurol. 2003 Apr;18(4):300-3. doi: 10.1177/08830738030180040401. J Child Neurol. 2003. PMID: 12760436

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