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Author Details

Michael A Gonzalez
The Genesis Project Foundation
2012
53
36
PMIDPaper TitleJournal TitlePublished Year
32242913Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.Neurol Neurochir Pol2020
28501821Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth disease.J Neurol Neurosurg Psychiatry2017
28459997Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Brain2017
28295203PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.Clin Genet2017
26919060MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.Hum Mutat2016
27588448Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.Am J Hum Genet2016
27658901TYROBP genetic variants in early-onset Alzheimer's disease.Neurobiol Aging2016
27629094SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.Neurology2016
26912637Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.Brain2016
27040688Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.Am J Hum Genet2016
27086870SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.Brain2016
27009151De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Brain2016
27084228Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.J Neurol Sci2016
25542617Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.Mol Genet Metab2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26189493First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.BMC Med Genet2015
26100331Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.J Neurol2015
26227883Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.Neuromuscul Disord2015
26173844Innovative genomic collaboration using the GENESIS (GEM.app) platform.Hum Mutat2015
26168012Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.Nat Genet2015
26109717Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.Neurology2015
25878907Rare Manifestation of a c.290 C&gt;T, p.Gly97Glu VCP Mutation.Case Rep Genet2015
25751627De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.Nat Genet2015
25818867Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.Brain2015
25497877Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.Brain2015
24253200Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.Brain2014
25466870Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.Am J Hum Genet2014
25439726Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Am J Hum Genet2014
24970096Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.Brain2014
25125609A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.Brain2014
25168514Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.Hum Mutat2014
24808017Motor protein mutations cause a new form of hereditary spastic paraplegia.Neurology2014
24742043Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.Orphanet J Rare Dis2014
24958874Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila.Proc Natl Acad Sci U S A2014
24517879Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.Eur J Neurol2014
24355708PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.Brain2014
24388663Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.Am J Hum Genet2014
24121961A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.J Alzheimers Dis2014
23332916Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.Am J Hum Genet2013
24207122A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.Am J Hum Genet2013
23857908Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.Hum Mutat2013
23664120Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.Am J Hum Genet2013
23746551Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.Am J Hum Genet2013
23729695Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.J Neurol Neurosurg Psychiatry2013
23418287Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.Circ Cardiovasc Genet2013
23463597GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis.Hum Mutat2013
23486545Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).Eur J Hum Genet2013
23483706Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.Hum Mutat2013
22232211Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.J Clin Invest2012
22235333Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.PLoS One2012
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