4.6 Review

Clinical Trial Designs and Measures in Hereditary Spastic Paraplegias

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

Kyle Denton et al.

HUMAN MOLECULAR GENETICS (2018)

Article Neurosciences

Differential Expression of Several miRNA's and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients

Katarina Vrabec et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)

Article Biochemistry & Molecular Biology

Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms

Carl Julien et al.

HUMAN MOLECULAR GENETICS (2016)

Letter Clinical Neurology

Treatment of SPG5 with cholesterol-lowering drugs

Andrea Mignarri et al.

JOURNAL OF NEUROLOGY (2015)

Article Clinical Neurology

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

Matthieu Bereau et al.

JOURNAL OF NEUROLOGY (2015)

Article Neurosciences

Automated measurement of fast mitochondrial transport in neurons

Kyle E. Miller et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2015)

Article Clinical Neurology

Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia

Konstantinos Margetis et al.

CLINICAL NEUROLOGY AND NEUROSURGERY (2014)

Article Clinical Neurology

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

Daniele Orsucci et al.

CLINICAL NEUROLOGY AND NEUROSURGERY (2014)

Review Cell Biology

Fishing for causes and cures of motor neuron disorders

Shunmoogum A. Patten et al.

DISEASE MODELS & MECHANISMS (2014)

Article Biochemistry & Molecular Biology

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients neurons

Steven Havlicek et al.

HUMAN MOLECULAR GENETICS (2014)

Article Endocrinology & Metabolism

Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

Dongling Dai et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Neurosciences

StartReact Restores Reaction Time in HSP: Evidence for Subcortical Release of a Motor Program

Jorik Nonnekes et al.

JOURNAL OF NEUROSCIENCE (2014)

Review Clinical Neurology

Ophthalmic manifestations of inherited neurodegenerative disorders

Hannah M. Kersten et al.

NATURE REVIEWS NEUROLOGY (2014)

Review Public, Environmental & Occupational Health

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

Luis Ruano et al.

NEUROEPIDEMIOLOGY (2014)

Article Clinical Neurology

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

N. Collongues et al.

EUROPEAN JOURNAL OF NEUROLOGY (2013)

Article Medicine, Research & Experimental

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

Christian Beetz et al.

JOURNAL OF CLINICAL INVESTIGATION (2013)

Article Genetics & Heredity

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

Kathrin N. Karle et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Genetics & Heredity

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Janneke H. M. Schuurs-Hoeijmakers et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Parasitology

Comparison between the spastic paraplegia rating scale, Kurtzke scale, and Osame scale in the tropical spastic paraparesis/myelopathy associated with HTLV

Rodrigo Antonio Rocha da Cruz Adry et al.

Revista da Sociedade Brasileira de Medicina Tropical (2012)

Article Clinical Neurology

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study

Chiara Criscuolo et al.

JOURNAL OF NEUROLOGY (2009)

Article Clinical Neurology

Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

A. K. Erichsen et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2009)

Article Clinical Neurology

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

L. Samaranch et al.

NEUROLOGY (2008)

Article Clinical Neurology

Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia

K. H. Scheuer et al.

EUROPEAN JOURNAL OF NEUROLOGY (2007)

Article Medicine, Research & Experimental

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

M Pirozzi et al.

JOURNAL OF CLINICAL INVESTIGATION (2006)

Article Physiology

Inter- and intrastrain variation in mouse critical running speed

VL Billat et al.

JOURNAL OF APPLIED PHYSIOLOGY (2005)

Article Medicine, Research & Experimental

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

F Ferreirinha et al.

JOURNAL OF CLINICAL INVESTIGATION (2004)

Article Rehabilitation

Validity and reliability comparison of 4 mobility measures in patients presenting with neurologic impairment

P Rossier et al.

ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION (2001)