Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

TFG clusters COPII-coated transport carriers and promotes early secretory pathway organization

(2015) A. Johnson et al.   EMBO JOURNAL

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

(2015) Marie Coutelier et al.   JOURNAL OF NEUROLOGY

Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

(2014) Josef Finsterer   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Molecular aspects of hereditary spastic paraplegia

(2014) Anne Noreau et al.   EXPERIMENTAL CELL RESEARCH

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

(2014) Maria Schabhüttl et al.   JOURNAL OF NEUROLOGY

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

(2013) Susanne T de Bot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

(2013) Salma M. Wakil et al.   GENE

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

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

(2013) C. Beetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

(2010) Alice Abdel Aleem et al.   European Journal of Medical Genetics

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia

(2008) Amir Boukhris et al.   ARCHIVES OF NEUROLOGY

An update on inherited ataxias

(2008) Tanja Schmitz-Hübsch et al.   Current Neurology and Neuroscience Reports

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

(2008) Paola S. Denora et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES