about
Sporadic ALS is not associated with VAPB gene mutations in Southern ItalyMutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2ACharcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.5-HTTLPR, anxiety and gender interaction moderates right amygdala volume in healthy subjectsThe natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.MAO A VNTR polymorphism and amygdala volume in healthy subjects.A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis.Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.MAO A VNTR polymorphism and variation in human morphology: a VBM study.A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity.Genetically dependent modulation of serotonergic inactivation in the human prefrontal cortex.First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy.Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement.A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in ItalyKinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegiaAtaxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosisFUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysisThe p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegiaTARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosisA novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern ItalyFirst evidence of a pathogenic insertion in the NOTCH3 gene causing CADASILA novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsiesNovel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegiaComparison of different techniques for detecting 17p12 duplication in CMT1ACould mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-6413-3935
@en
name
Maria Muglia
@ast
Maria Muglia
@en
Maria Muglia
@es
Maria Muglia
@nl
type
label
Maria Muglia
@ast
Maria Muglia
@en
Maria Muglia
@es
Maria Muglia
@nl
prefLabel
Maria Muglia
@ast
Maria Muglia
@en
Maria Muglia
@es
Maria Muglia
@nl
P106
P1153
7004831244
P21
P31
P496
0000-0001-6413-3935