Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach

Structural signature of SCA3: from presymptomatic to late disease stages

(2018) Thiago Junqueira Ribeiro Rezende et al.   ANNALS OF NEUROLOGY

Otoneurological findings prevalent in hereditary ataxias

(2018) Bianca Simone Zeigelboim et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

The importance of central auditory evaluation in Friedreich's ataxia

(2018) Bianca Simone Zeigelboim et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

ATP1A3-related disorders: An update

(2018) Miryam Carecchio et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

What Is Behind Cerebellar Vertigo and Dizziness?

(2018) Katharina Feil et al.   CEREBELLUM

Developmental and neurodegenerative damage in Friedreich's ataxia

(2018) T. J. R. Rezende et al.   EUROPEAN JOURNAL OF NEUROLOGY

POLG-related disorders and their neurological manifestations

(2018) Shamima Rahman et al.   Nature Reviews Neurology

Mitochondrial Metabolism in Major Neurological Diseases

(2018) Zhengqiu Zhou et al.   Cells

La ataxia espinocerebelosa 36 (SCA36): «Ataxia da Costa da Morte»

(2017) M. Arias et al.   NEUROLOGIA

Cerebellar Ataxia and Hearing Impairment

(2017) Chi-Ying Lin et al.   JAMA Neurology

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

(2016) Justine Lerat et al.   HUMAN MUTATION

Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome

(2015) José Luiz Pedroso et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Primary and secondary ataxias

(2015) Hélio A.G. Teive et al.   CURRENT OPINION IN NEUROLOGY

Cervical and ocular vestibular evoked potentials in Machado–Joseph disease: Functional involvement of otolith pathways

(2015) Rodrigo Souza Ribeiro et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?

(2015) José Luiz Pedroso et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Adult onset sporadic ataxias: a diagnostic challenge

(2014) Orlando Graziani Povoas Barsottini et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

(2014) C. Guissart et al.   HUMAN MOLECULAR GENETICS

Nonmotor and extracerebellar features in Machado-Joseph disease: A review

(2013) José Luiz Pedroso et al.   MOVEMENT DISORDERS

A Novel de novo Exon 21 DNMT1 Mutation Causes Cerebellar Ataxia, Deafness, and Narcolepsy in a Brazilian Patient

(2013) José Luiz Pedroso et al.   SLEEP

Acute Bilateral Deafness as the First Symptom of Wernicke Encephalopathy: Fig 1.

(2012) S.-Q. Zhang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse test

(2011) Hanni Kirchner et al.   Annals of the New York Academy of Sciences

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis

(2011) David J. Szmulewicz et al.   Annals of the New York Academy of Sciences

Primary and secondary CoQ10 deficiencies in humans

(2011) Catarina M. Quinzii et al.   BIOFACTORS

Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome

(2011) D. J. Szmulewicz et al.   NEUROLOGY

Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome

(2011) David J. Szmulewicz et al.   OTOLOGY & NEUROTOLOGY

Autosomal recessive ataxias: 20 types, and counting

(2010) Emília Katiane Embiruçu et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Impulsive Testing of Semicircular-Canal Function Using Video-oculography

(2009) Konrad P. Weber et al.   Annals of the New York Academy of Sciences

The EAST Syndrome andKCNJ10Mutations

(2009)   NEW ENGLAND JOURNAL OF MEDICINE

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM