Lidia González‐Quereda

Universitat Autònoma de Barcelona — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index1.4kcitations87works1.02yr avg
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Research Topics

Muscle Physiology and Disorders(48), Cardiomyopathy and Myosin Studies(20), Neurogenetic and Muscular Disorders Research(18), RNA Research and Splicing(16), Nuclear Structure and Function(12)

Publications87 total

490PA recurrent non-coding 3’UTR variant as a hidden second hit in 11 families with CAPN3-related limb girdle muscular dystrophy
Neuromuscular Disorders·2025· 1 cited
345PAcquired lipid storage myopathy with MADD acylcarnitine profile secondary to sertraline treatment: an emerging disorder
Neuromuscular Disorders·2025
Expanding the clinical–radiological phenotype of SCA34 and its role in the differential diagnosis of the hot cross bun sign
Journal of Neurology·2025
Repeat Expansions in <i>PLIN4</i> Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology·2025Open Access
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy
Journal of Neuromuscular Diseases·2025· 1 citedOpen Access
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Neurología (English Edition)·2025Open Access
Translating Muscle <scp>RNAseq</scp> Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology·2025· 3 citedOpen Access
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Neurología·2025Open Access
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy
Journal of Neurology·2025
A founder variant in the <scp><i>RYR1</i></scp> gene is associated with <scp>hyperCKemia</scp>, myalgia and muscle cramps
European Journal of Neurology·2025· 2 citedOpen Access
495P Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families
Neuromuscular Disorders·2024
478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases
Neuromuscular Disorders·2024
Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)
Archivos de Bronconeumología·2024· 6 citedOpen Access
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)
Journal of Neurology·2023· 9 citedOpen Access
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Neuromuscular Disorders·2023· 2 cited
Genetic screening for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) in patients with chronic cough. Preliminary analysis
2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
Neuromuscular Disorders·2023· 2 cited
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Neuromuscular Disorders·2023· 28 citedOpen Access
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
Neuromuscular Disorders·2022· 6 cited
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Journal of Medical Genetics·2022· 13 citedOpen Access
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Frequent Co-authors

P. Gallano(39), A. Nascimento(16), Jordi Díaz‐Manera(14), C. Ortez(12), Montse Olivé(12), Eduard Gallardo(11), Daniel Natera‐de Benito(11), Isabel Illa(8), Cristina Jou(8), C. Jimenez‐Mallebrera(8), Alba Segarra‐Casas(8), Maria José Rodríguez(7), Jorge Alonso‐Pérez(7), Cristina Domínguez‐González(7), Roberto Fernández‐Torrón(7), Adolfo López de Munaín(7), Juan J. Vílchez(7), Volker Straub(7), Jonàs Juan‐Mateu(6), Edgard Verdura(6)