Published in Am J Hum Genet on September 23, 2003
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol (2013) 2.30
Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci (2011) 2.30
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet (2005) 2.01
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet (2003) 1.82
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules. Nat Neurosci (2007) 1.73
Cellular magnesium homeostasis. Arch Biochem Biophys (2011) 1.46
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum Mol Genet (2009) 1.35
Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G⁹³A transgenic ALS mice. J Neurosci (2011) 1.29
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J Med Genet (2005) 1.19
Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. Neurogenetics (2006) 1.15
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet (2008) 1.09
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet (2015) 1.09
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet (2010) 1.06
Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda) (2012) 1.00
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. J Neurosci (2008) 1.00
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics (2007) 0.99
The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci (2015) 0.93
AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS. Neurobiol Dis (2012) 0.91
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics (2005) 0.89
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology (2005) 0.88
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1. Mol Cell Neurosci (2010) 0.86
Differential gene expression in nearly isogenic lines with QTL for partial resistance to Puccinia hordei in barley. BMC Genomics (2010) 0.85
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. Neurogenetics (2010) 0.85
Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking. Mol Cell Neurosci (2012) 0.84
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis (2013) 0.84
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. PLoS One (2012) 0.83
Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons. Mol Cytogenet (2011) 0.82
Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions. Mol Neuropsychiatry (2015) 0.79
A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus. PLoS One (2016) 0.78
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome? Case Rep Genet (2014) 0.77
Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms. Hum Mol Genet (2016) 0.77
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation. Acta Neuropathol (2012) 0.77
Copy Number Variants in Alzheimer's Disease. J Alzheimers Dis (2016) 0.75
Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54). BMC Res Notes (2015) 0.75
Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene. Eur J Neurol (2013) 0.75
HEREDITARY MYELOPATHIES. Continuum (N Y) (2008) 0.75
Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model. J Neuropathol Exp Neurol (2013) 0.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet (2001) 3.92
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet (2001) 2.86
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet (2002) 2.17
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Proc Natl Acad Sci U S A (2001) 2.17
p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase. J Biol Chem (1998) 2.05
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet (2003) 1.92
GCP5 and GCP6: two new members of the human gamma-tubulin complex. Mol Biol Cell (2001) 1.90
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet (2003) 1.82
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet (1995) 1.52
Hereditary spastic paraplegia: the pace quickens. Ann Neurol (2002) 1.22
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. Semin Neurol (1999) 0.92
Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family. Neurology (1995) 0.91
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia. Neurology (2000) 0.85
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences. Nature (2007) 7.91
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1. J Clin Invest (2008) 3.02
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol (2004) 2.45
The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing. Hum Mol Genet (2010) 1.83
Hereditary spastic paraplegia: spastin phenotype and function. Arch Neurol (2004) 1.68
Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet (2008) 1.66
Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin: further support for existence of a new zinc overload syndrome. Arch Neurol (2003) 1.57
Possible genomic imprinting of three human obesity-related genetic loci. Am J Hum Genet (2005) 1.54
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol (2005) 1.45
Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol (2006) 1.43
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol (2006) 1.37
Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Mamm Genome (2005) 1.22
Hereditary spastic paraplegia: the pace quickens. Ann Neurol (2002) 1.22
Recent assembly of an imprinted domain from non-imprinted components. PLoS Genet (2006) 1.17
The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans. Proc Natl Acad Sci U S A (2006) 1.15
Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin II. The denture cream is a primary source of excessive zinc. Neurotoxicology (2009) 1.04
Recommendations for the investigation of animal models of Prader-Willi syndrome. Mamm Genome (2013) 1.01
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Res (2005) 1.00
Neuropathy target esterase (NTE): overview and future. Chem Biol Interact (2012) 0.99
Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res (2009) 0.98
Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch Neurol (2003) 0.96
The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. Arch Neurol (2003) 0.93
Porphyric neuropathy. Muscle Nerve (2004) 0.91
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat (2013) 0.90
Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesis. Toxicol Lett (2010) 0.89
The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors. Nucleic Acids Res (2006) 0.87
A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels. Genomics (2005) 0.86
In vivo evolution of tumor-derived endothelial cells. PLoS One (2012) 0.86
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. Ann Neurol (2002) 0.86
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families. Muscle Nerve (2011) 0.85
Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes. BMC Genomics (2005) 0.85
Molecular characterization of isosporoid coccidia (Isospora and Atoxoplasma spp.) in passerine birds. J Parasitol (2005) 0.84
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. PLoS One (2012) 0.83
White matter changes in Wilson disease. Arch Neurol (2002) 0.82
Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome. Am J Physiol Endocrinol Metab (2011) 0.80
What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity? Curr Diab Rep (2004) 0.79
Sporadically occurring neurologic disease: HSP genes and apparently sporadic spastic paraplegia. Neurology (2008) 0.78
Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties. Toxicol Lett (2010) 0.78
Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia. J Neurogenet (2008) 0.78
Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome. Brain Res (2002) 0.77
Further studies toward a mouse model for biochemical assessment of neuropathic potential of organophosphorus compounds. J Appl Toxicol (2014) 0.77
Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics (2011) 0.77
Morphea and Parry-Romberg syndrome associated with a mixed movement disorder. Parkinsonism Relat Disord (2013) 0.75
HEREDITARY MYELOPATHIES. Continuum (N Y) (2008) 0.75
Physical mapping of the pink-eyed dilution complex in mouse chromosome 7 shows that Atp10c is the only transcript between Gabrb3 and Ube3a. DNA Seq (2004) 0.75
Rare treatable neurologic diseases. Semin Neurol (2013) 0.75