4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience.

[1]  M. Synofzik,et al.  Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B , 2023, Scientific reports.

[2]  Liam G. Fearnley,et al.  An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. , 2023, American journal of human genetics.

[3]  L. Schöls,et al.  GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. , 2023, Brain : a journal of neurology.

[4]  A. Puschmann,et al.  Patients' Perspective in Hereditary Ataxia. , 2022, Cerebellum.

[5]  L. Schöls,et al.  Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3 , 2022, Movement disorders : official journal of the Movement Disorder Society.

[6]  G. Coppola,et al.  Identification of Gait Unbalance and Fallers Among Subjects with Cerebellar Ataxia by a Set of Trunk Acceleration-Derived Indices of Gait , 2022, The Cerebellum.

[7]  M. Hadjivassiliou,et al.  Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study , 2021, AMRC Open Research.

[8]  R. Schüle,et al.  Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives , 2021, Nucleic acid therapeutics.

[9]  Han-Joon Kim,et al.  Placebo response in degenerative cerebellar ataxias: a descriptive review of randomized, placebo-controlled trials , 2020, Journal of Neurology.

[10]  L. Schöls,et al.  Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies , 2019, Neuron.

[11]  Lynn Rochester,et al.  The Role of Movement Analysis in Diagnosing and Monitoring Neurodegenerative Conditions: Insights from Gait and Postural Control , 2019, Brain sciences.

[12]  T. Brandt,et al.  Gait variability predicts a subset of falls in cerebellar gait disorders , 2017, Journal of Neurology.

[13]  T. Klockgether,et al.  Experience in a short-term trial with 4-Aminopyridine in cerebellar ataxia , 2013, Journal of Neurology.

[14]  T. Brandt,et al.  4-Aminopyridine and cerebellar gait: a retrospective case series , 2012, Journal of Neurology.

[15]  T. Brandt,et al.  Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure , 2012, Movement disorders : official journal of the Movement Disorder Society.

[16]  T. Brandt,et al.  4-Aminopyridine improves gait variability in cerebellar ataxia due to CACNA 1A mutation , 2011, Journal of Neurology.

[17]  A. Durr,et al.  Scale for the Assessment and Rating of Ataxia (SARA) , 2010 .

[18]  Thomas Brandt,et al.  Increased gait variability is associated with the history of falls in patients with cerebellar ataxia , 2013, Journal of Neurology.