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E Bertini

Showing results (181-190 of 205) with videos related to

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Neurology|June 16, 2005
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathyS Lucioli, B Giusti, E Mercuri, et al.
Neuromuscular Disorders : NMD|October 26, 2002
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The NetherlandsF Muntoni, E Bertini, C Bönnemann, et al.
Clinical Genetics|April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemiaA Torraco, M Bianchi, D Verrigni, et al.
Neurology|October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studiesD Cassandrini, R Biancheri, A Tessa, et al.
Neuromuscular Disorders : NMD|April 17, 2007
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric studyF D Tiziano, E Bertini, S Messina, et al.
Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
Neuromuscular Disorders : NMD|June 26, 2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane, S Messina, G Vasco, et al.
Neurology|November 4, 2006
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyE Mercuri, E Bertini, S Messina, et al.
Annals of Neurology|September 15, 2010
RYR1 mutations are a common cause of congenital myopathies with central nucleiJ M Wilmshurst, S Lillis, H Zhou, et al.
Neurology|January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumC Casali, E M Valente, E Bertini, et al.
Pageof 21

Showing results (181-190 of 205) with videos related to

Sort By:
Pageof 21
Neurology|June 16, 2005
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathyS Lucioli, B Giusti, E Mercuri, et al.
Neuromuscular Disorders : NMD|October 26, 2002
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The NetherlandsF Muntoni, E Bertini, C Bönnemann, et al.
Clinical Genetics|April 23, 2016
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemiaA Torraco, M Bianchi, D Verrigni, et al.
Neurology|October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studiesD Cassandrini, R Biancheri, A Tessa, et al.
Neuromuscular Disorders : NMD|April 17, 2007
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric studyF D Tiziano, E Bertini, S Messina, et al.
Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.
Neuromuscular Disorders : NMD|June 26, 2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyM Pane, S Messina, G Vasco, et al.
Neurology|November 4, 2006
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyE Mercuri, E Bertini, S Messina, et al.
Annals of Neurology|September 15, 2010
RYR1 mutations are a common cause of congenital myopathies with central nucleiJ M Wilmshurst, S Lillis, H Zhou, et al.
Neurology|January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumC Casali, E M Valente, E Bertini, et al.
Pageof 21