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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Neuron (Cambridge, Mass.), 2018-06, Vol.98 (6), p.1116-1123.e5

2018

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Reply to “SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction”

Annals of neurology, 2023-12, Vol.94 (6), p.1189-1189

2023

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Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia

Movement disorders, 2023-09, Vol.38 (9), p.1750-1755

2023

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GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

Annals of neurology, 2022-09, Vol.92 (3), p.512-526

2022

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Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Annals of neurology, 2023-02, Vol.93 (2), p.244-256

2023

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Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene

Movement disorders, 2022-03, Vol.37 (3), p.641-643

2022

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Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations

Movement disorders, 2021-06, Vol.36 (6), p.1446-1450

2021

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Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization

Movement disorders, 2024-01, Vol.39 (1), p.152-163

2024

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Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

Molecular neurodegeneration, 2018-07, Vol.13 (1), p.36-36, Article 36

2018

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Base editing-mediated splicing correction therapy for spinal muscular atrophy

Cell research, 2020-06, Vol.30 (6), p.548-550

2020

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Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-391, Article 391

2021

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Advances in gene therapy for neurogenetic diseases: a brief review

Journal of molecular medicine (Berlin, Germany), 2022-03, Vol.100 (3), p.385-394

2022

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Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

Brain (London, England : 1878), 2019-08, Vol.142 (8), p.2238-2252

2019

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Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation

Acta neuropathologica, 2022-06, Vol.143 (6), p.733-735

2022

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Knockdown of myorg leads to brain calcification in zebrafish

Molecular brain, 2022-07, Vol.15 (1), p.1-65, Article 65

2022

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Detection of pTDP-43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis

Brain pathology (Zurich, Switzerland), 2024-04, p.e13261-e13261

2024

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Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse

Molecular therapy. Nucleic acids, 2024-06, Vol.35 (2), p.102165-102165, Article 102165

2024

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Prognostic analysis of amyotrophic lateral sclerosis based on clinical features and plasma surface‐enhanced Raman spectroscopy

Journal of biophotonics, 2019-08, Vol.12 (8), p.e201900012-n/a

2019

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Identification of SLC20A2 deletions in patients with primary familial brain calcification

Clinical genetics, 2019-07, Vol.96 (1), p.53-60

2019

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Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study

BMJ open, 2022-01, Vol.12 (1), p.e054011-e054011

2022

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Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Parkinsonism & related disorders, 2019-05, Vol.62, p.134-140

2019

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Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families

Journal of human genetics, 2017-07, Vol.62 (7), p.697-701

2017

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Correction to: Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-451, Article 451

2021

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Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction

Chinese medical journal, 2020-10, Vol.133 (20), p.2510-2511

2020

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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Reply to “SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction”

Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene

Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

Base editing-mediated splicing correction therapy for spinal muscular atrophy

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification

Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Advances in gene therapy for neurogenetic diseases: a brief review

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation

Knockdown of myorg leads to brain calcification in zebrafish

Detection of pTDP-43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis

Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse

Prognostic analysis of amyotrophic lateral sclerosis based on clinical features and plasma surface‐enhanced Raman spectroscopy

Identification of SLC20A2 deletions in patients with primary familial brain calcification

Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study

Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families

Correction to: Potential markers for sample size estimations in hereditary spastic paraplegia type 5

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction

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