α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?

Aoife P. Kiely, Yasmine T. Asi, Eleanna Kara, +10

Acta Neuropathologica

Motor DysfunctionNeurogenomicsBrain DevelopmentNeurological DisorderGenetics +23

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, +30

The American Journal of Human Genetics

X-linked Dominant FormGenetic DisorderGeneticsGenomic MechanismMolecular Biology +6

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, +37

Nature Communications

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Arianna Tucci, Claudia Manzoni, +25

Brain

GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationGenomics +14

Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, +15

Annals of Neurology

GeneticsCytoskeletonMolecular GeneticsDisease Gene IdentificationSynaptic Signaling +15

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Aoife P. Kiely, Helen Ling, Yasmine T. Asi, +15

Molecular Neurodegeneration

Genetic Analysis of Inherited Leukodystrophies

Rita Guerreiro, Eleanna Kara, Isabelle Le Ber, +23

JAMA Neurology

Pathogenic Parkinson’s disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

Claudia Manzoni, Adamantios Mamais, Sybille Dihanich, +13

Biochemical and Biophysical Research Communications

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

Eleanna Kara, Helen Ling, Alan Pittman, +11

Neurobiology of Aging

A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism

Eleanna Kara, Aoife P. Kiely, Christos Proukakis, +16

JAMA Neurology