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Luciano Merlini

Showing results (91-100 of 117) with videos related to

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American Journal of Human Genetics|June 21, 2002
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CGiuseppe Novelli, Antoine Muchir, Federica Sangiuolo, et al.
Human Mutation|August 24, 2006
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndromeMorgane Stum, Claire-Sophie Davoine, Savine Vicart, et al.
Neuromuscular Disorders : NMD|November 18, 2005
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2ISilvia Torelli, Susan C Brown, Martin Brockington, et al.
Brain : a Journal of Neurology|July 10, 2004
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy Irobi, Peter Van den Bergh, Luciano Merlini, et al.
Muscle & Nerve|August 9, 2021
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1Chiara Ticci, Denise Cassandrini, Anna Rubegni, et al.
Neuromuscular Disorders : NMD|September 18, 2007
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathiesHiroshi Manya, Céline Bouchet, Akiko Yanagisawa, et al.
BMC Genomics|December 2, 2008
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesMatteo Bovolenta, Marcella Neri, Sergio Fini, et al.
Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.
Neurology. Genetics|June 8, 2026
Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case SeriesGianmarco Severa, Christine Barnerias, Cyril Gitiaux, et al.
BMC Medical Genetics|August 17, 2012
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotypeSimona Brioschi, Francesca Gualandi, Chiara Scotton, et al.
Pageof 12

Showing results (91-100 of 117) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|June 21, 2002
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CGiuseppe Novelli, Antoine Muchir, Federica Sangiuolo, et al.
Human Mutation|August 24, 2006
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndromeMorgane Stum, Claire-Sophie Davoine, Savine Vicart, et al.
Neuromuscular Disorders : NMD|November 18, 2005
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2ISilvia Torelli, Susan C Brown, Martin Brockington, et al.
Brain : a Journal of Neurology|July 10, 2004
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy Irobi, Peter Van den Bergh, Luciano Merlini, et al.
Muscle & Nerve|August 9, 2021
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1Chiara Ticci, Denise Cassandrini, Anna Rubegni, et al.
Neuromuscular Disorders : NMD|September 18, 2007
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathiesHiroshi Manya, Céline Bouchet, Akiko Yanagisawa, et al.
BMC Genomics|December 2, 2008
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesMatteo Bovolenta, Marcella Neri, Sergio Fini, et al.
Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.
Neurology. Genetics|June 8, 2026
Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case SeriesGianmarco Severa, Christine Barnerias, Cyril Gitiaux, et al.
BMC Medical Genetics|August 17, 2012
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotypeSimona Brioschi, Francesca Gualandi, Chiara Scotton, et al.
Pageof 12