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SWAMNA: a comprehensive platform for analysis of nucleic acid modifications

Chemical communications (Cambridge, England), 2023-10, Vol.59 (83), p.12499-1252

2023

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Two DOT1 enzymes cooperatively mediate efficient ubiquitin-independent histone H3 lysine 76 tri-methylation in kinetoplastids

Nature communications, 2024-03, Vol.15 (1), p.2467-2467, Article 2467

2024

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The antiproliferative effect of FGF2 in K-Ras-driven tumor cells involves modulation of rRNA and the nucleolus

Journal of cell science, 2023-11, Vol.136 (22)

2023

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Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients

Neurology, 2001-12, Vol.57 (11), p.2136

2001

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Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Neurology, 2010-07, Vol.75 (4), p.316

2010

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New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S199-S199

2016

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Role of hypoxia in innate immunity activation in dermatomyositis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S246-S247

2015

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Comparative micromorphology and anatomy of seeds and endocarps of selected Primulaceae and their systematic implications

Plant systematics and evolution, 2020-08, Vol.306 (4), Article 74

2020

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A new phenotype of dysferlinopathy with congenital onset

Neuromuscular disorders : NMD, 2009-01, Vol.19 (1), p.21-25

2009

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Systematic and phylogenetic implications of the wood anatomy of six Neotropical genera of Primulaceae

Plant systematics and evolution, 2018-06, Vol.304 (6), p.775-791

2018

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G.P.287

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.903-903

2014

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Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

European journal of neurology, 2011-07, Vol.18 (7), p.1021-1023

2011

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Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.69-76

2007

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Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

Journal of neurology, 2008-05, Vol.255 (5), p.764-766

2008

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Identification of novel GH-regulated genes in C2C12 cells

Hormone and metabolic research, 2011-12, Vol.43 (13), p.919

2011

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Symptomatic dysferlin gene mutation carriers: characterization of two cases

Neurology, 2007-04, Vol.68 (16), p.1284

2007

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Analysis of near-IR photon emissions from 50-nm n- and p-channel Si MOSFETs

IEEE transactions on electron devices, 2005-06, Vol.52 (6), p.1211-1214

2005

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IEEE_Xplore

G.P.10.08 Increased lysosomes trafficking and poly(ADP-ribose)polymerase-1 expression in dysferlin myopathy: Implications in muscle fiber necrosis

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.792-792

2008

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G.P.10.03 Quantification of dysferlin in monocytes: A useful tool for the detection of patients and carriers of dysferlinopathy

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.790-791

2008

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PRE-CLINICAL DEVELOPMENTS IN NEUROMUSCULAR DISORDERS: O.14 PDGF-AA enhances skeletal muscle fibrosis in Duchenne muscular dystrophy through Rho-kinase pathway

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S161-S161

2021

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PRE-CLINICAL DEVELOPMENTS IN NEUROMUSCULAR DISORDERS

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S161

2021

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G.P.8.10 Muscle imaging in familial asymptomatic hyperCKemia due to mutations in caveolin-3 gene

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.813-813

2007

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G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.788-789

2007

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P.380 - New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S199-S199

2016

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LIMB-GIRDLE MUSCULAR DYSTROPHY I

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S33

2018

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SWAMNA: a comprehensive platform for analysis of nucleic acid modifications

Two DOT1 enzymes cooperatively mediate efficient ubiquitin-independent histone H3 lysine 76 tri-methylation in kinetoplastids

The antiproliferative effect of FGF2 in K-Ras-driven tumor cells involves modulation of rRNA and the nucleolus

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches

Role of hypoxia in innate immunity activation in dermatomyositis

Comparative micromorphology and anatomy of seeds and endocarps of selected Primulaceae and their systematic implications

A new phenotype of dysferlinopathy with congenital onset

Systematic and phylogenetic implications of the wood anatomy of six Neotropical genera of Primulaceae

G.P.287

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

Identification of novel GH-regulated genes in C2C12 cells

Symptomatic dysferlin gene mutation carriers: characterization of two cases

Analysis of near-IR photon emissions from 50-nm n- and p-channel Si MOSFETs

G.P.10.08 Increased lysosomes trafficking and poly(ADP-ribose)polymerase-1 expression in dysferlin myopathy: Implications in muscle fiber necrosis

G.P.10.03 Quantification of dysferlin in monocytes: A useful tool for the detection of patients and carriers of dysferlinopathy

PRE-CLINICAL DEVELOPMENTS IN NEUROMUSCULAR DISORDERS: O.14 PDGF-AA enhances skeletal muscle fibrosis in Duchenne muscular dystrophy through Rho-kinase pathway

PRE-CLINICAL DEVELOPMENTS IN NEUROMUSCULAR DISORDERS

G.P.8.10 Muscle imaging in familial asymptomatic hyperCKemia due to mutations in caveolin-3 gene

G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene

P.380 - New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches

LIMB-GIRDLE MUSCULAR DYSTROPHY I

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