Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients

(2014) J. Müller vom Hagen et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2014) B. P. C. van de Warrenburg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Rab18 and a Rab18 GEF complex are required for normal ER structure

(2014) Andreas Gerondopoulos et al.   JOURNAL OF CELL BIOLOGY

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

(2014) H. Shimazaki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

(2013) Jonathan S. Berg et al.   GENETICS IN MEDICINE

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

(2013) Susanne T. Bot et al.   JOURNAL OF NEUROLOGY

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

(2013) Jennifer Hirst et al.   MOLECULAR BIOLOGY OF THE CELL

Foot Drop Stimulation Versus Ankle Foot Orthosis After Stroke

(2013) Patricia M. Kluding et al.   STROKE

Genetic Analysis in Neurology

(2013) Alan Pittman et al.   JAMA Neurology

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

(2012) Cynthia V. Bourassa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional walking ability of paraplegic patients: comparison of functional electrical stimulation versus mechanical orthoses

(2012) Mohammad Taghi Karimi   European Journal of Orthopaedic Surgery and Traumatology

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

(2012) Gladys Montenegro et al.   JOURNAL OF CLINICAL INVESTIGATION

Reviewing the genetic causes of spastic-ataxias

(2012) S. T. de Bot et al.   NEUROLOGY

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

(2011) Cyril Goizet et al.   HUMAN MUTATION

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

(2011) Anna Sulek et al.   NEUROLOGICAL SCIENCES

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

Botulinum Toxin Injections for Pediatric Patients With Hereditary Spastic Paraparesis

(2010) Keren Geva-Dayan et al.   JOURNAL OF CHILD NEUROLOGY

Copper deficiency myelopathy

(2010) Stephan R. Jaiser et al.   JOURNAL OF NEUROLOGY

Child Neurology: Hereditary spastic paraplegia in children

(2010) S. T. de Bot et al.   NEUROLOGY

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

(2009) C. Goizet et al.   BRAIN

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

(2009) A Boukhris et al.   CLINICAL 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

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

(2008) Katharina J Schlang et al.   BMC Medical Genetics

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

(2008) Christian Beetz et al.   BRAIN

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

(2008) Moneef Shoukier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

(2008) A. Tessa et al.   JOURNAL OF NEUROLOGY

SPG10 is a rare cause of spastic paraplegia in European families

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

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

(2008) Christian Beetz et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The Prevalence of Hereditary Spastic Paraplegia and the Occurrence of SPG4 Mutations in Estonia

(2008) Mark Braschinsky et al.   NEUROEPIDEMIOLOGY

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

(2008) Channa Hewamadduma et al.   NEUROGENETICS

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY