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L Merlini

Showing results (181-190 of 209) with videos related to

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Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.
Annals of Neurology|August 1, 1997
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sampleM Mora, L Cartegni, C Di Blasi, et al.
Neurology|June 11, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patientsJ S Müller, G Mildner, W Müller-Felber, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosisP Guicheney, N Vignier, A Helbling-Leclerc, et al.
Gene Therapy|November 13, 2009
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexesA Ferlini, P Sabatelli, M Fabris, et al.
Brain : a Journal of Neurology|April 29, 1998
Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findingsL Kalaydjieva, A Nikolova, I Turnev, et al.
Nature Genetics|March 18, 1999
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyG Bonne, M R Di Barletta, S Varnous, et al.
Neurology|August 28, 2002
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophyA J van der Kooi, G Bonne, B Eymard, et al.
Neuromuscular Disorders : NMD|December 1, 1996
From adhalinopathies to alpha-sarcoglycanopathies: an overviewM Jeanpierre, A Carrié, F Piccolo, et al.
Human Molecular Genetics|December 1, 1996
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of IndiaF Piccolo, M Jeanpierre, F Leturcq, et al.
Pageof 21

Showing results (181-190 of 209) with videos related to

Sort By:
Pageof 21
Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.
Annals of Neurology|August 1, 1997
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sampleM Mora, L Cartegni, C Di Blasi, et al.
Neurology|June 11, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patientsJ S Müller, G Mildner, W Müller-Felber, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosisP Guicheney, N Vignier, A Helbling-Leclerc, et al.
Gene Therapy|November 13, 2009
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexesA Ferlini, P Sabatelli, M Fabris, et al.
Brain : a Journal of Neurology|April 29, 1998
Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findingsL Kalaydjieva, A Nikolova, I Turnev, et al.
Nature Genetics|March 18, 1999
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyG Bonne, M R Di Barletta, S Varnous, et al.
Neurology|August 28, 2002
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophyA J van der Kooi, G Bonne, B Eymard, et al.
Neuromuscular Disorders : NMD|December 1, 1996
From adhalinopathies to alpha-sarcoglycanopathies: an overviewM Jeanpierre, A Carrié, F Piccolo, et al.
Human Molecular Genetics|December 1, 1996
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of IndiaF Piccolo, M Jeanpierre, F Leturcq, et al.
Pageof 21