Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

Ataxia‐telangiectasia: A review of clinical features and molecular pathology

(2019) Parisa Amirifar et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template

(2019) Tobias Lindig et al.   CEREBELLUM

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

(2019) Marie Beaudin et al.   CEREBELLUM

Cerebellar ataxias

(2019) Mario Manto et al.   CURRENT OPINION IN NEUROLOGY

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes

(2018) Vicki Modell et al.   IMMUNOLOGIC RESEARCH

Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging?

(2018) D. Heidelberg et al.   JOURNAL OF NEURORADIOLOGY

Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2018) Asthik Biswas et al.   NEUROLOGY

Nonataxia symptoms in Friedreich Ataxia

(2018) Kathrin Reetz et al.   NEUROLOGY

A new MRI marker of ataxia with oculomotor apraxia

(2018) Solène Ronsin et al.   EUROPEAN JOURNAL OF RADIOLOGY

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

(2018) Lorenzo Nanetti et al.   JOURNAL OF NEUROLOGY

A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American

(2018) Sean C. Dougherty et al.   Frontiers in Neurology

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

(2017) Gerald Salen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression

(2017) Andrea Mignarri et al.   JOURNAL OF NEUROLOGY

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

(2017) L. L. Mariani et al.   Scientific Reports

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

(2017) Luis C. Velázquez-Pérez et al.   Frontiers in Neurology

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

(2016) Deborah A. Hall et al.   CEREBELLUM

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

(2016) Sarah Kalus et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood

(2016) Giulia Perucca et al.   JOURNAL OF NEURORADIOLOGY

Seemingly dominant inheritance of a recessiveANO10mutation in romani families with cerebellar ataxia

(2016) Nataša Dragašević Mišković et al.   MOVEMENT DISORDERS

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia

(2015) Maria R. Stefanescu et al.   BRAIN

Structural and Functional Magnetic Resonance Imaging of the Cerebellum: Considerations for Assessing Cerebellar Ataxias

(2015) Andreas Deistung et al.   CEREBELLUM

"Hot Cross Bun" Sign Associated with SCA1

(2015) Michito Namekawa et al.   INTERNAL MEDICINE

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis

(2015) Andrea Mignarri et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical Evaluation of Eye Movements in Spinocerebellar Ataxias

(2015) M. Moscovich et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

Spinal cord atrophy in spinocerebellar ataxia type 1

(2014) Jose Luiz Pedroso et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Emerging topics in FXTAS

(2014) Deborah A Hall et al.   Journal of Neurodevelopmental Disorders

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

(2014) Andrea Balreira et al.   JOURNAL OF NEUROLOGY

Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content

(2014) K. Solbach et al.   NeuroImage-Clinical

The Cerebellum Looks Normal in Friedreich Ataxia

(2013) M. Mascalchi   AMERICAN JOURNAL OF NEURORADIOLOGY

Cerebral Abnormalities in Adults with Ataxia-Telangiectasia

(2013) D.D.M. Lin et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Hereditary ataxias: overview

(2013) Suman Jayadev et al.   GENETICS IN MEDICINE

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

(2013) Michael H. Parkinson et al.   JOURNAL OF NEUROCHEMISTRY

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

(2013) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus

(2013) Solène Frismand et al.   NeuroImage-Clinical

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia

(2013) Arnulf H Koeppen et al.   Acta Neuropathologica Communications

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

(2012) E. Prodi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinical Features of Friedreich Ataxia

(2012) Martin B. Delatycki et al.   JOURNAL OF CHILD NEUROLOGY

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

(2011) L. Eichler et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

(2011) Teodora Chamova et al.   JOURNAL OF NEUROLOGY

Mortality in Friedreich Ataxia

(2011) Amy Y. Tsou et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

(2010) Sascha Vermeer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia

(2010) Shi-Rui Gan et al.   BMC Medical Genetics

Assessment of Brain White Matter Fiber Bundle Atrophy in Patients with Friedreich Ataxia

(2010) Elisabetta Pagani et al.   RADIOLOGY

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

(2009) M. Anheim et al.   BRAIN

The ‘hot cross bun’ sign in the patients with spinocerebellar ataxia

(2009) Y.-C. Lee et al.   EUROPEAN JOURNAL OF NEUROLOGY

Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17

(2009) A. G. Shah et al.   HUMAN MOLECULAR GENETICS

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

(2009) Yin-guang Wang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)

(2009) Therése Hugosson et al.   OPHTHALMIC GENETICS

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

(2008) Paschalis Nicolaou et al.   BMC Medical Genetics

Magnetic resonance imaging in spinocerebellar ataxias

(2008) Susanne Döhlinger et al.   CEREBELLUM

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

(2008) Sascha Vermeer et al.   NEUROGENETICS