Pedro M. Cruz-Rodriguez

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 46 publications

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Journal: Molecular biology reports

Published: November 13, 2025

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes.

Journal: Human mutation

Published: February 10, 2025

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Journal: Neurology. Genetics

Published: January 17, 2025

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2023

260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands.

260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: November 17, 2022

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.

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.

Journal: Neuromuscular disorders : NMD

Published: July 18, 2022

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis.

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis.

Journal: Frontiers in molecular neuroscience

Published: September 28, 2020

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.

Journal: Brain communications

Published: May 26, 2020

Seasonal distribution of attacks in aquaporin-4 antibody disease and myelin-oligodendrocyte antibody disease.

Seasonal distribution of attacks in aquaporin-4 antibody disease and myelin-oligodendrocyte antibody disease.

Journal: Journal of the neurological sciences

Published: February 24, 2020

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.

Journal: Neuromuscular disorders : NMD

Published: December 04, 2019

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: October 02, 2019

Showing 1-12 of 46

Last Updated: 09/26/2026