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Recent advances in the genetic neuropathies

Current opinion in neurology, 2016-10, Vol.29 (5), p.537-548

2016

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"Lentiform fork sign" in uremic striatopallidal syndrome: a rare cause of parkinsonism

Arquivos de neuro-psiquiatria, 2024-08, Vol.82 (8), p.1-2

2024

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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Neurology, 2020-01, Vol.94 (1), p.e51

2020

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Brain Structural Signature of RFC1‐Related Disorder

Movement disorders, 2021-11, Vol.36 (11), p.2634-2641

2021

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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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Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients

Movement disorders, 2022-08, Vol.37 (8), p.1773-1774

2022

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Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Neurology, 2017-04, Vol.88 (15), p.1445-1453

2017

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Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A

European journal of neurology, 2024-05, Vol.31 (5), p.e16199

2024

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There is no shortage, but inequality: demographic evolution of neurologists in Brazil (2010–2020)

Arquivos de neuro-psiquiatria, 2023-02, Vol.81 (2), p.134-145

2023

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Small-Expanded Allele Spinocerebellar Ataxia Type 17 Leading to Broad Movement Disorder Phenotype in a Brazilian Patient

Cerebellum (London, England), 2022-12, Vol.21 (6), p.1151-1153

2022

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Primary neural leprosy: clinical, neurophysiological and pathological presentation and progression

Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1499-1506

2022

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Monoclonal gammopathy‐associated peripheral neuropathies: Uncovering pearls and challenges

Journal of the peripheral nervous system, 2024-06, Vol.29 (2), p.161-172

2024

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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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Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy

Journal of the peripheral nervous system, 2022-12, Vol.27 (4), p.316-319

2022

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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

Neurology, 2016-10, Vol.87 (15), p.1607-1612

2016

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Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil

Cerebellum (London, England), 2024-03

2024

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IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Neuromuscular disorders : NMD, 2018-12, Vol.28 (12), p.1012-1015

2018

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Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children

Journal of the peripheral nervous system, 2024-03, Vol.29 (1), p.97-106

2024

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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Clinical genetics, 2024-07, Vol.106 (1), p.13-26

2024

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Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families

Journal of the peripheral nervous system, 2023-12, Vol.28 (4), p.614-619

2023

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GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease

Neuromuscular disorders : NMD, 2021-06, Vol.31 (6), p.505-511

2021

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A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder

Journal of the peripheral nervous system, 2017-12, Vol.22 (4), p.460-463

2017

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Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis

Arquivos de neuro-psiquiatria, 2022-07, Vol.80 (7), p.676-680

2022

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Severe cognitive impairment in a patient with CMT2A

Journal of the peripheral nervous system, 2018-06, Vol.23 (2), p.147-148

2018

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

Recent advances in the genetic neuropathies

"Lentiform fork sign" in uremic striatopallidal syndrome: a rare cause of parkinsonism

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Brain Structural Signature of RFC1‐Related Disorder

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

Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A

There is no shortage, but inequality: demographic evolution of neurologists in Brazil (2010–2020)

Small-Expanded Allele Spinocerebellar Ataxia Type 17 Leading to Broad Movement Disorder Phenotype in a Brazilian Patient

Primary neural leprosy: clinical, neurophysiological and pathological presentation and progression

Monoclonal gammopathy‐associated peripheral neuropathies: Uncovering pearls and challenges

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

Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder

Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis

Severe cognitive impairment in a patient with CMT2A

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