Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

(2015) Tobias Lindig et al.   JOURNAL OF NEUROLOGY

Brain White Matter Involvement in Hereditary Spastic Paraplegias: Analysis with Multiple Diffusion Tensor Indices

(2014) G. Aghakhanyan et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

(2014) Viviana Pensato et al.   BRAIN

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

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

(2013) Kathrin N Karle et al.   Orphanet Journal of Rare Diseases

Autosomal Dominant Spastic Paraplegias

(2013) José Leal Loureiro et al.   JAMA Neurology

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular Pathways of Hereditary Spastic Paraplegia

(2012) Craig Blackstone   Annual Review of Neuroscience

Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

(2012) Koen L. I. van Gassen et al.   BRAIN

“Ears of the Lynx” Sign in a Marchiafava-Bignami patient: Structural Basis and Fiber-Tracking DTI Contribution to the Understanding of this Imaging Abnormality

(2012) Felipe Torres Pacheco et al.   JOURNAL OF NEUROIMAGING

White and grey matter abnormalities in patients withSPG11mutations

(2012) Marcondes C França et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

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

The Cortical Signature of Amyotrophic Lateral Sclerosis

(2012) Federica Agosta et al.   PLoS One

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

(2011) Cyril Goizet et al.   HUMAN MUTATION

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males

(2011) Christos Proukakis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Aids to the Investigation of Peripheral Nerve Injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty's Stationery Office: 1942; pp. 48 (iii) and 74 figures and 7 diagrams; with Aids to the Examination of the Peripheral Nervous System. By Michael O'Brien for the Guarantors of Brain. Saunders Elsevier: 2010; pp. [8] 64 and 94 Figures

(2010) A. Compston   BRAIN

Electrophysiological characterisation in hereditary spastic paraplegia type 5

(2010) Fiore Manganelli et al.   CLINICAL NEUROPHYSIOLOGY

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

(2010) S. T. de Bot et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Specific pattern of early white-matter changes in pure hereditary spastic paraplegia

(2010) Thomas Duning et al.   MOVEMENT DISORDERS

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

(2010) Olimpia Musumeci et al.   NEUROLOGICAL SCIENCES

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Christian Beetz et al.   BRAIN

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

(2008) Channa Hewamadduma et al.   NEUROGENETICS

Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum

(2008) Qin Chen et al.   NEUROSCIENCE LETTERS