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Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

The Journal of physiology, 2015-06, Vol.593 (12), p.2693-2706

2015

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Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation “in Vitro”

The Journal of biological chemistry, 2006-06, Vol.281 (25), p.17092-17098

2006

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Identification of serum microRNAs as potential biomarkers in Pompe disease

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1214-1224

2019

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Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

Journal of neurology, neurosurgery and psychiatry, 2018-02, Vol.89 (2), p.162-168

2018

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Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

Human gene therapy, 2016-09, Vol.27 (9), p.656-667

2016

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Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis

Scientific reports, 2020-03, Vol.10 (1), p.4308-4308, Article 4308

2020

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Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

Human mutation, 2014-08, Vol.35 (8), p.990-997

2014

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PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1079-1086

2014

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Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease

Brain (London, England : 1878), 2012-07, Vol.135 (Pt 7), p.2048-2057

2012

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The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo

The Journal of pathology, 2012-12, Vol.228 (4), p.544-553

2012

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Cortical microstructure in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

Neurology, 2020-11, Vol.95 (18), p.e2565

2020

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Role of Thrombospondin 1 in Macrophage Inflammation in Dysferlin Myopathy

Journal of neuropathology and experimental neurology, 2010-06, Vol.69 (6), p.643-653

2010

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X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Muscle & nerve, 2005-07, Vol.32 (1), p.61-65

2005

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Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy

PloS one, 2011-12, Vol.6 (12), p.e29061-e29061

2011

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In Vivo and In Vitro Dysferlin Expression in Human Muscle Satellite Cells

Journal of neuropathology and experimental neurology, 2004-10, Vol.63 (10), p.1104-1113

2004

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CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum

Neurology, 2018-10, Vol.91 (17), p.e1619

2018

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Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies

Journal of the peripheral nervous system, 2012-06, Vol.17 (2), p.158-168

2012

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Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies

Neuromuscular disorders : NMD, 2018-02, Vol.28 (2), p.137-143

2018

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Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2017-07, Vol.18 (5-6), p.333-340

2017

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Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population

Archives of neurology (Chicago), 2005-08, Vol.62 (8), p.1256

2005

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Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(α2–3)Gal

Journal of neurology, neurosurgery and psychiatry, 2010-06, Vol.81 (6), p.623-628

2010

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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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1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial

Molecular therapy, 2012-10, Vol.20 (10), p.1988-1997

2012

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A novel antiganglioside specificity against terminal NeuNAc(alfa 2–3)Gal in acute bulbar palsy

Journal of neuroimmunology, 2006-07, Vol.176 (1), p.219-222

2006

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Detecting SARS‐CoV‐2 RNA in conjunctival secretions: Is it a valuable diagnostic method of COVID‐19?

Journal of medical virology, 2021-01, Vol.93 (1), p.383-388

2021

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Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

Absence of Dysferlin Alters Myogenin Expression and Delays Human Muscle Differentiation “in Vitro”

Identification of serum microRNAs as potential biomarkers in Pompe disease

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo

Cortical microstructure in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

Role of Thrombospondin 1 in Macrophage Inflammation in Dysferlin Myopathy

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy

In Vivo and In Vitro Dysferlin Expression in Human Muscle Satellite Cells

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum

Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(α2–3)Gal

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

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial

A novel antiganglioside specificity against terminal NeuNAc(alfa 2–3)Gal in acute bulbar palsy

Detecting SARS‐CoV‐2 RNA in conjunctival secretions: Is it a valuable diagnostic method of COVID‐19?

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