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Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

Journal of the neurological sciences, 2021-08, Vol.427, p.117498-117498, Article 117498

2021

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The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Experimental neurology, 2018-09, Vol.307, p.155-163

2018

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Deep structured learning for variant prioritization in Mendelian diseases

Nature communications, 2023-07, Vol.14 (1), p.4167-4167, Article 4167

2023

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Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

Brain (London, England : 1878), 2021-05, Vol.144 (5), p.1467-1481

2021

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The role of PGC‐1 coactivators in aging skeletal muscle and heart

IUBMB life, 2012-03, Vol.64 (3), p.231-241

2012

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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

American journal of human genetics, 2016-04, Vol.98 (4), p.597-614

2016

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Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.e95-e98

2022

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Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia

Biochimica et biophysica acta. Molecular basis of disease, 2024-10, Vol.1870 (7), p.167348, Article 167348

2024

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

Journal of neurology, 2023-05, Vol.270 (5), p.2576-2590

2023

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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

The Journal of clinical investigation, 2012-02, Vol.122 (2), p.538-544

2012

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SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

Brain (London, England : 1878), 2018-03, Vol.141 (3), p.662-672

2018

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In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions

Nucleic acids research, 2009-11, Vol.37 (20), p.6701

2009

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Brain (London, England : 1878), 2023-10, Vol.146 (10), p.4191-4199

2023

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Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Clinical genetics, 2020-03, Vol.97 (3), p.521-526

2020

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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

Neurology, 2022-03, Vol.98 (11), p.440

2022

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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in medicine, 2022-12, Vol.24 (12), p.2487-2500

2022

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Mitochondrial DNA transcription regulation and nucleoid organization

Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.941-951

2011

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Insights into the genotype‐phenotype correlation and molecular function of SLC25A46

Human mutation, 2018-12, Vol.39 (12), p.1995-2007

2018

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Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

Neurology, 2017-05, Vol.88 (22), p.2132

2017

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

Brain (London, England : 1878), 2021-05, Vol.144 (4), p.1197-1213

2021

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Motor protein mutations cause a new form of hereditary spastic paraplegia

Neurology, 2014-06, Vol.82 (22), p.2007

2014

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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Nature communications, 2018-12, Vol.9 (1), p.5342-14, Article 5342

2018

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

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Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

Annals of neurology, 2019-03, Vol.85 (3), p.316-330

2019

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Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Deep structured learning for variant prioritization in Mendelian diseases

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

The role of PGC‐1 coactivators in aging skeletal muscle and heart

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

In vivo methylation of mtDNA reveals the dynamics of protein-mtDNA interactions

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Mitochondrial DNA transcription regulation and nucleoid organization

Insights into the genotype‐phenotype correlation and molecular function of SLC25A46

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

Motor protein mutations cause a new form of hereditary spastic paraplegia

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

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