4.7 Article

Severe axonal neuropathy is a late manifestation of SPG11

Related references

Note: Only part of the references are listed.
Review Neurosciences

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

Temistocle Lo Giudice et al.

EXPERIMENTAL NEUROLOGY (2014)

Article Biochemistry & Molecular Biology

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

Francesc Perez-Branguli et al.

HUMAN MOLECULAR GENETICS (2014)

Article Medicine, Research & Experimental

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

Jaerak Chang et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Article Genetics & Heredity

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

Charlotte J. Sumner et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Cell Biology

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

Jennifer Hirst et al.

MOLECULAR BIOLOGY OF THE CELL (2013)

Review Clinical Neurology

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

Josef Finsterer et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)

Review Genetics & Heredity

Towards a complete resolution of the genetic architecture of disease

Andrew B. Singleton et al.

TRENDS IN GENETICS (2010)

Article Genetics & Heredity

SPG11 Mutations Cause Kjellin Syndrome, a Hereditary Spastic Paraplegia With Thin Corpus Callosum and Central Retinal Degeneration

Hanna Orlen et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)

Article Clinical Neurology

SPG11 - the most common type of recessive spastic paraplegia in Norway?

A. K. Erichsen et al.

ACTA NEUROLOGICA SCANDINAVICA (2008)

Article Clinical Neurology

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

L. Samaranch et al.

NEUROLOGY (2008)

Article Clinical Neurology

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

Ure Hehr et al.

ANNALS OF NEUROLOGY (2007)

Article Multidisciplinary Sciences

A seven-helix coiled coil

Jie Liu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)