Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

[1]  J. Schuurs-Hoeijmakers,et al.  Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness , 2012, Nature Genetics.

[2]  M. Tagaya,et al.  Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. , 2012, Biochimica et biophysica acta.

[3]  J. Garbern,et al.  Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders , 2012, Seminars in Neurology.

[4]  P. Bauer,et al.  Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) , 2012, neurogenetics.

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

[6]  F. Alkuraya,et al.  A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) , 2011, neurogenetics.

[7]  C. Duyckaerts,et al.  Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia , 2011, Molecular and Cellular Neuroscience.

[8]  M. Nöthen,et al.  Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. , 2011, American journal of human genetics.

[9]  M. Battaglini,et al.  Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI , 2011, Journal of Neurology.

[10]  A. Tolun,et al.  A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. , 2011, Human molecular genetics.

[11]  Zhihua Liu,et al.  Drosophila Acyl-CoA Synthetase Long-Chain Family Member 4 Regulates Axonal Transport of Synaptic Vesicles and Is Required for Synaptic Development and Transmission , 2011, The Journal of Neuroscience.

[12]  H. Bellen,et al.  The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases , 2011, Current Opinion in Neurobiology.

[13]  C. Blackstone,et al.  Hereditary spastic paraplegias: membrane traffic and the motor pathway , 2011, Nature Reviews Neuroscience.

[14]  Christian Gilissen,et al.  A de novo paradigm for mental retardation , 2010, Nature Genetics.

[15]  M. Tagaya,et al.  Golgi‐localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells , 2010, FEBS letters.

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

[17]  S. Sigrist,et al.  The Active Zone T-Bar—A Plasticity Module? , 2010, Journal of neurogenetics.

[18]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[19]  J. Bonifacino,et al.  Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex. , 2010, Developmental cell.

[20]  Annette Schenck,et al.  CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. , 2009, American journal of human genetics.

[21]  J. Veltman,et al.  OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. , 2009, American journal of human genetics.

[22]  H. Arai,et al.  Intracellular Phospholipase A1γ (iPLA1γ) Is a Novel Factor Involved in Coat Protein Complex I- and Rab6-independent Retrograde Transport between the Endoplasmic Reticulum and the Golgi Complex* , 2009, The Journal of Biological Chemistry.

[23]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[24]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[25]  A. Bizzi,et al.  Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. , 2009, Brain : a journal of neurology.

[26]  B. Dickson,et al.  A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila , 2007, Nature.

[27]  P. Dechent,et al.  Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI , 2006, Neuroradiology.

[28]  C. Broeckhoven,et al.  A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy , 2006, Neurology.

[29]  H. Cross,et al.  Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. , 2003, American journal of human genetics.

[30]  A. Giangrande,et al.  CYFIP/Sra-1 Controls Neuronal Connectivity in Drosophila and Links the Rac1 GTPase Pathway to the Fragile X Protein , 2003, Neuron.

[31]  M. Tagaya,et al.  A Novel Phospholipase A1 with Sequence Homology to a Mammalian Sec23p-interacting Protein, p125* , 2002, The Journal of Biological Chemistry.

[32]  F. Gabreëls,et al.  Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. , 2001, Brain : a journal of neurology.

[33]  V. Budnik,et al.  Drosophila larval neuromuscular junction: Molecular components and mechanisms underlying synaptic plasticity , 2000, Microscopy research and technique.

[34]  A. Iwamatsu,et al.  p125 Is a Novel Mammalian Sec23p-interacting Protein with Structural Similarity to Phospholipid-modifying Proteins* , 1999, The Journal of Biological Chemistry.

[35]  N. Perrimon,et al.  Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. , 1993, Development.

[36]  K. Davies,et al.  Linkage studies of X-linked recessive spastic paraplegia using DNA probes , 1986, Human Genetics.

[37]  C. Blackstone,et al.  Hereditary spastic paraplegias: membrane traffic and the motor pathway , 2011, Nature Reviews Neuroscience.