| # | Title | Journal | Year | Citations |
|---|
| 1 | Gene expression analyses reveal molecular relationships among 20 regions of the human CNS | Neurogenetics | 2006 | 308 |
| 2 | PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 | Neurogenetics | 2005 | 269 |
| 3 | Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses | Neurogenetics | 2005 | 261 |
| 4 | A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan | Neurogenetics | 2006 | 255 |
| 5 | Heterogeneous dysregulation of microRNAs across the autism spectrum | Neurogenetics | 2008 | 245 |
| 6 | Lrrk2 pathogenic substitutions in Parkinson's disease | Neurogenetics | 2005 | 237 |
| 7 | Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease | Neurogenetics | 2006 | 212 |
| 8 | Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers | Neurogenetics | 1998 | 164 |
| 9 | Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management | Neurogenetics | 2010 | 161 |
| 10 | Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis | Neurogenetics | 1997 | 157 |
| 11 | MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls | Neurogenetics | 2005 | 157 |
| 12 | CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations | Neurogenetics | 2007 | 156 |
| 13 | Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism | Neurogenetics | 2001 | 155 |
| 14 | Investigation of autism and GABA receptor subunit genes in multiple ethnic groups | Neurogenetics | 2006 | 141 |
| 15 | Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis | Neurogenetics | 2013 | 140 |
| 16 | Genetic animal models of anxiety | Neurogenetics | 2003 | 138 |
| 17 | Analysis of sequence variability of the bovine prion protein gene ( PRNP ) in German cattle breeds | Neurogenetics | 2004 | 132 |
| 18 | ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia | Neurogenetics | 2008 | 132 |
| 19 | Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification | Neurogenetics | 2013 | 131 |
| 20 | Genome-scale methylation analysis of Parkinson's disease patients' brains reveals DNA hypomethylation and increased mRNA expression of cytochrome P450 2E1 | Neurogenetics | 2012 | 122 |
| 21 | The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain | Neurogenetics | 1998 | 121 |
| 22 | Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder | Neurogenetics | 2010 | 121 |
| 23 | Mutations in the Caenorhabditis elegans dystrophin-like gene dys-1 lead to hyperactivity and suggest a link with cholinergic transmission | Neurogenetics | 1998 | 118 |
| 24 | A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs | Neurogenetics | 2004 | 117 |
| 25 | LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease | Neurogenetics | 2010 | 114 |
| 26 | Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis | Neurogenetics | 2012 | 114 |
| 27 | The medial and lateral substantia nigra in Parkinson’s disease: mRNA profiles associated with higher brain tissue vulnerability | Neurogenetics | 2007 | 108 |
| 28 | Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri | Neurogenetics | 2012 | 107 |
| 29 | PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family | Neurogenetics | 2014 | 107 |
| 30 | Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease | Neurogenetics | 2008 | 105 |
| 31 | NR2A and NR2B receptor gene variations modify age at onset in Huntington disease | Neurogenetics | 2005 | 104 |
| 32 | Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease | Neurogenetics | 2009 | 104 |
| 33 | Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood | Neurogenetics | 2013 | 104 |
| 34 | Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis | Neurogenetics | 2008 | 102 |
| 35 | miR-338-3p is over-expressed in blood, CFS, serum and spinal cord from sporadic amyotrophic lateral sclerosis patients | Neurogenetics | 2014 | 99 |
| 36 | SCA2 trinucleotide expansion in German SCA patients | Neurogenetics | 1997 | 98 |
| 37 | Molecular cell biology of Charcot-Marie-Tooth disease | Neurogenetics | 2002 | 98 |
| 38 | Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families | Neurogenetics | 2014 | 98 |
| 39 | The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups | Neurogenetics | 2004 | 96 |
| 40 | A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family | Neurogenetics | 2002 | 93 |
| 41 | Towards a pathway definition of Parkinson’s disease: a complex disorder with links to cancer, diabetes and inflammation | Neurogenetics | 2008 | 92 |
| 42 | Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy | Neurogenetics | 2015 | 92 |
| 43 | Nitric oxide synthase genes and their interactions with environmental factors in Parkinson’s disease | Neurogenetics | 2008 | 91 |
| 44 | Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation | Neurogenetics | 2010 | 90 |
| 45 | MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways | Neurogenetics | 2013 | 89 |
| 46 | Evidence for allelic association of the dopamine β-hydroxylase gene (DBH) with susceptibility to typical migraine | Neurogenetics | 2000 | 89 |
| 47 | Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome | Neurogenetics | 2003 | 88 |
| 48 | Genetic studies in autistic disorder and chromosome 15 | Neurogenetics | 2000 | 86 |
| 49 | Transcriptome analysis reveals link between proteasomal and mitochondrial pathways in Parkinson’s disease | Neurogenetics | 2006 | 85 |
| 50 | Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability | Neurogenetics | 2011 | 84 |
