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Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy

Neurology, 2021-02, Vol.96 (5), p.e798

2021

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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

Acta neuropathologica, 2020-06, Vol.139 (6), p.1089-1104

2020

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Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

Scientific reports, 2023-01, Vol.13 (1), p.270-270, Article 270

2023

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Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Communications biology, 2021-03, Vol.4 (1), p.355-355, Article 355

2021

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Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer‐assisted evaluation

Muscle & nerve, 2022-05, Vol.65 (5), p.560-567

2022

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Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Frontiers in neurology, 2018-03, Vol.9, p.118

2018

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Toe-extension myotonia in myotonic dystrophy type 1

Neurology, 2015-07, Vol.85 (2), p.203-203

2015

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Myotonic disorders

Neurology India, 2008-07, Vol.56 (3), p.298-304

Mankodi, Ami

2008

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Progressive Degenerative Myofibrillar Myopathy in Knock-In Mice Expressing LDB3 p.A165V Protein: A Mouse Model for Markesbery-Griggs Distal Myopathy (S23.009)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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Consensus-based care recommendations for adults with myotonic dystrophy type 1

Neurology. Clinical practice, 2018-12, Vol.8 (6), p.507-520

2018

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Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

The Journal of biological chemistry, 2014-05, Vol.289 (19), p.13615-13626

2014

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of neurology, neurosurgery and psychiatry, 2021-11, Vol.92 (11), p.1186-1196

2021

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Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1) (S22.002)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study (S22.004)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Oligomerization of ZASP, a Myofibrillar Myopathy Gene Product, In Vitro and In Vivo (P1.058)

Neurology, 2014-04, Vol.82 (10_supplement)

2014

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Concentric exercise effects on skeletal muscle water T2 in Duchenne muscular dystrophy (P2.131)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Muscle & nerve, 2018-05, Vol.57 (5), p.749-755

2018

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Upper arm, pulmonary and cardiac magnetic resonance imaging for relative disease status in Duchenne muscular dystrophy (P1.130)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Mutations In Zaspopathy Cause Disruption Of Actinin-Crosslinked Actin Filaments, The Core Structure Of Skeletal Muscle Z-discs (S61.007)

Neurology, 2014-04, Vol.82 (10_supplement)

2014

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Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G‑Actin

Biochemistry (Easton), 2017-04, Vol.56 (14), p.2061-2070

2017

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Annals of clinical and translational neurology, 2014-06, Vol.1 (6), p.379-389

2014

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Peripheral Neuropathy in a Family with Sandhoff Disease and SH3TC2 Deficiency (P2.031)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

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Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in a trial of exon-skipping for boys with Duchenne muscular dystrophy (P5.052)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Journal of neuromuscular diseases, 2020-01, Vol.7 (2), p.153-166

2020

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Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer‐assisted evaluation

Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Toe-extension myotonia in myotonic dystrophy type 1

Myotonic disorders

Progressive Degenerative Myofibrillar Myopathy in Knock-In Mice Expressing LDB3 p.A165V Protein: A Mouse Model for Markesbery-Griggs Distal Myopathy (S23.009)

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1) (S22.002)

Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study (S22.004)

Oligomerization of ZASP, a Myofibrillar Myopathy Gene Product, In Vitro and In Vivo (P1.058)

Concentric exercise effects on skeletal muscle water T2 in Duchenne muscular dystrophy (P2.131)

Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Upper arm, pulmonary and cardiac magnetic resonance imaging for relative disease status in Duchenne muscular dystrophy (P1.130)

Mutations In Zaspopathy Cause Disruption Of Actinin-Crosslinked Actin Filaments, The Core Structure Of Skeletal Muscle Z-discs (S61.007)

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G‑Actin

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Peripheral Neuropathy in a Family with Sandhoff Disease and SH3TC2 Deficiency (P2.031)

Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in a trial of exon-skipping for boys with Duchenne muscular dystrophy (P5.052)

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

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