KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

[1]  N. Bresolin,et al.  Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations , 2012, Clinical genetics.

[2]  A. Mes-Masson,et al.  KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. , 2011, American journal of human genetics.

[3]  Yaniv Erlich,et al.  Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. , 2011, Genome research.

[4]  J. Petersen,et al.  KIF1A is the primary anterograde motor protein required for the axonal transport of dense-core vesicles in cultured hippocampal neurons , 2011, Neuroscience Letters.

[5]  G. Rouleau,et al.  Genetics of motor neuron disorders: new insights into pathogenic mechanisms , 2009, Nature Reviews Genetics.

[6]  A. Durr,et al.  CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. , 2009, Brain : a journal of neurology.

[7]  A. Durr,et al.  Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 , 2009, Human mutation.

[8]  A. Dalton,et al.  New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) , 2009, neurogenetics.

[9]  Christos Proukakis,et al.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms , 2008, The Lancet Neurology.

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

[11]  F. Pasquier,et al.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. , 2008, Brain : a journal of neurology.

[12]  Andrew H Crosby,et al.  Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. , 2008, American journal of human genetics.

[13]  R. Schüle,et al.  SPG10 is a rare cause of spastic paraplegia in European families , 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

[14]  A. Durr,et al.  Hereditary spastic paraplegias: an update , 2007, Current opinion in neurology.

[15]  S. Klebe,et al.  Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. , 2006, Brain : a journal of neurology.

[16]  A. Durr,et al.  Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia , 2006, Neurology.

[17]  A. Durr,et al.  A new phenotype linked to SPG27 and refinement of the critical region on chromosome , 2006, Journal of Neurology.

[18]  C. Schwartz,et al.  Dense Core Vesicle Dynamics in Caenorhabditis elegans Neurons and the Role of Kinesin UNC‐104 , 2004, Traffic.

[19]  R. Vale,et al.  Distinct conformations of the kinesin Unc104 neck regulate a monomer to dimer motor transition , 2003, The Journal of cell biology.

[20]  M. Pericak-Vance,et al.  A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). , 2002, American journal of human genetics.

[21]  Roger Cooke,et al.  A structural change in the kinesin motor protein that drives motility , 1999, Nature.

[22]  A. Ballabio,et al.  A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. , 1998, American journal of human genetics.

[23]  N. Hirokawa,et al.  Defect in Synaptic Vesicle Precursor Transport and Neuronal Cell Death in KIF1A Motor Protein–deficient Mice , 1998, The Journal of cell biology.

[24]  J. Weissenbach,et al.  Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. , 1998, Journal of medical genetics.

[25]  Ronald D Vale,et al.  The Directional Preference of Kinesin Motors Is Specified by an Element outside of the Motor Catalytic Domain , 1997, Cell.