EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement After One Year of Treatment with Chenodeoxycholic Acid.

(2017) Olivier Bonnot et al.   CNS SPECTRUMS

Transglutaminase 6 antibodies in the diagnosis of gluten ataxia

(2013) M. Hadjivassiliou et al.   NEUROLOGY

Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series

(2012) Maurício Fernandes et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

(2012) Y. H. Chien et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

A randomized trial of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3

(2012) T. A. Zesiewicz et al.   NEUROLOGY

FXTAS: New insights and the need for revised diagnostic criteria

(2012) E. Apartis et al.   NEUROLOGY

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C

(2012) Maja Di Rocco et al.   PEDIATRIC NEUROLOGY

Genetics of the Dominant Ataxias

(2012) Dineke Verbeek et al.   SEMINARS IN NEUROLOGY

New insights into atypical parkinsonism

(2011) Gregor K. Wenning et al.   CURRENT OPINION IN NEUROLOGY

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

(2011) Rita Horvath et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Downbeat nystagmus, ataxia and spastic tetraparesis due to coeliac disease

(2011) Mario Habek et al.   NEUROLOGICAL SCIENCES

Multiple system atrophy: a clinical and neuropathological perspective

(2011) Kiren Ubhi et al.   TRENDS IN NEUROSCIENCES

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

(2010) Jorge Sequeiros et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force

(2010) M. J. Titulaer et al.   EUROPEAN JOURNAL OF NEUROLOGY

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

(2010) E. J. Baldwin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial

(2010) G. Ristori et al.   NEUROLOGY

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

(2009) T. Gasser et al.   EUROPEAN JOURNAL OF NEUROLOGY

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

(2009) J. Finsterer et al.   EUROPEAN JOURNAL OF NEUROLOGY

Frequency of FMR1 premutation in individuals with ataxia and/or tremorand/or parkinsonism

(2009) A.H.O. Reis et al.   GENETICS AND MOLECULAR RESEARCH

Intravenous Immunoglobulin Therapy for Autoantibody-Positive Cerebellar Ataxia

(2009) Kazunori Nanri et al.   INTERNAL MEDICINE

Multiple system atrophy: an update

(2009) Nadia Stefanova et al.   LANCET NEUROLOGY

Effectiveness and safety of treatments for degenerative ataxias: A systematic review

(2009) M.Mar Trujillo-Martín et al.   MOVEMENT DISORDERS

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS

Treatment of imbalance with varenicline (Chantix®): report of a patient with fragile X tremor/ataxia syndrome

(2008) T. A. Zesiewicz et al.   ACTA NEUROLOGICA SCANDINAVICA

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association

(2008) Albert Saiz et al.   BRAIN

Treatment of Ataxia and Imbalance With Varenicline (Chantix)

(2008) Theresa A. Zesiewicz et al.   CLINICAL NEUROPHARMACOLOGY

Effect of intravenous immunoglobulin on cerebellar ataxia and neuropathic pain associated with celiac disease

(2008) N. Souayah et al.   EUROPEAN JOURNAL OF NEUROLOGY

Premutations in theFMR1Gene Are Uncommon in Men Undergoing Genetic Testing for Spinocerebellar Ataxia

(2008) Sara A. Adams et al.   JOURNAL OF NEUROGENETICS

Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

(2008) R Virgilio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Second consensus statement on the diagnosis of multiple system atrophy

(2008) S. Gilman et al.   NEUROLOGY

Abetalipoproteinemia: two case reports and literature review

(2008) Rola Zamel et al.   Orphanet Journal of Rare Diseases

Antigliadin antibodies in Cuban patients with spinocerebellar ataxia type 2

(2007) L E Almaguer-Mederos et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY