Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

[1]  Derek J Van Booven,et al.  GEnomes Management Application (GEM.app): A New Software Tool for Large‐Scale Collaborative Genome Analysis , 2013, Human mutation.

[2]  R. Schüle,et al.  Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia , 2013, Human mutation.

[3]  Alexandra Durr,et al.  Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. , 2013, American journal of human genetics.

[4]  G. Gyapay,et al.  Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. , 2012, American journal of human genetics.

[5]  A. V. Vulto-van Silfhout,et al.  Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. , 2012, American journal of human genetics.

[6]  J. Finsterer,et al.  Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance , 2012, Journal of the Neurological Sciences.

[7]  Kazuro Furukawa,et al.  Essential Roles of Gangliosides in the Formation and Maintenance of Membrane Microdomains in Brain Tissues , 2012, Neurochemical Research.

[8]  R. Schüle,et al.  Genetics of hereditary spastic paraplegias. , 2011, Seminars in neurology.

[9]  Kazuro Furukawa,et al.  Gangliosides are essential in the protection of inflammation and neurodegeneration via maintenance of lipid rafts: elucidation by a series of ganglioside‐deficient mutant mice , 2011, Journal of neurochemistry.

[10]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[11]  G. Grabowski,et al.  Multi-system disorders of glycosphingolipid and ganglioside metabolism , 2010, Journal of Lipid Research.

[12]  D. Zélénika,et al.  A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum , 2010, neurogenetics.

[13]  N. Siddique,et al.  Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis , 2010, Journal of Lipid Research.

[14]  M. Ruberg,et al.  Recent advances in the genetics of spastic paraplegias , 2008, Current neurology and neuroscience reports.

[15]  M. Simpson,et al.  A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14 , 2005, Journal of Medical Genetics.

[16]  R. Dwek,et al.  Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase , 2004, Nature Genetics.

[17]  A. Dürr,et al.  Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p , 2004, Annals of neurology.

[18]  Kazuro Furukawa,et al.  Morphological study of disordered myelination and the degeneration of nerve fibers in the spinal cord of mice lacking complex gangliosides. , 2003, Archives of histology and cytology.

[19]  T. Cox Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses , 2001, Journal of Inherited Metabolic Disease.

[20]  R. Ledeen,et al.  Cerebellar neurons lacking complex gangliosides degenerate in the presence of depolarizing levels of potassium. , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[21]  T. Crawford,et al.  Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[22]  K. Takamiya,et al.  Complex gangliosides are essential in spermatogenesis of mice: possible roles in the transport of testosterone. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[23]  K. Takamiya,et al.  Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[24]  S. Tsuji,et al.  A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. , 1987, The New England journal of medicine.

[25]  A. Harding CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS , 1983, The Lancet.

[26]  I. Choi,et al.  Hereditary spastic paraplegia. , 1983, Yonsei medical journal.

[27]  R. Brady,et al.  Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. , 1975, Science.

[28]  M. Rennels,et al.  GM3 (hematoside) sphingolipodystrophy. , 1974, The New England journal of medicine.

[29]  W. Behan,et al.  Strümpell's familial spastic paraplegia: genetics and neuropathology , 1974, Journal of neurology, neurosurgery, and psychiatry.

[30]  Pask Ea,et al.  HOMOSEXUALITY AS A CRIME. , 1965 .