L. Robak

发表

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Brain : a journal of neurology.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Demis A. Kia, Miguel Ángel Martínez, 2020, Nature Communications.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Genome Sequencing in the Parkinson Disease Clinic

C. Shaw, R. Gibbs, J. Jankovic, 2021, medRxiv.

The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome

R. Pfundt, D. Misceo, Yaping Yang, 2020, Human mutation.

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, The Lancet Neurology.

LRP10 in α-synucleinopathies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2018, The Lancet Neurology.

F. Alkuraya, H. Bellen, G. Demmler-Harrison, 2022, Annals of clinical and translational neurology.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Nature Communications.

Identification of sixteen novel candidate genes for late onset Parkinson’s disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Molecular Neurodegeneration.

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

C. Shaw, J. Lupski, J. Jankovic, 2020, Neurology: Genetics.

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

C. Shaw, J. Lupski, J. Jankovic, 2019 .

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

Molecular Basis of the Interactions of the Nogo-66 Receptor and Its Homolog NgR2 with Myelin-Associated Glycoprotein: Development of NgROMNI-Fc, a Novel Antagonist of CNS Myelin Inhibition

L. Robak, Jane Lee-Osbourne, R. Giger, 2009, The Journal of Neuroscience.

Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength

H. Yeh, L. Robak, R. Giger, 2008, The Journal of Neuroscience.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

David R. Murdock, Lauren S Blieden, J. Rosenfeld, 2021, American journal of medical genetics. Part A.

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Mercedes E. Alejandro, Alyssa A. Tran, J. Rosenfeld, 2019, bioRxiv.

Cerebrospinal Fluid Contains Biologically Active Bone Morphogenetic Protein-7

C. Horbinski, L. Robak, D. Higgins, 2001, Experimental Neurology.

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Michael F. Wangler, A. Goldman, C. Eng, 2019, Cold Spring Harbor molecular case studies.

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, medRxiv.

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

Genetics and Pathogenesis of Parkinson’s Syndrome

J. Shulman, M. Cykowski, L. Robak, 2022, Annual review of pathology.

Mechanisms of CNS myelin inhibition: evidence for distinct and neuronal cell type specific receptor systems.

L. Robak, R. Giger, T. Hofer, 2008, Restorative neurology and neuroscience.

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Michael F. Wangler, H. Bellen, F. Xia, 2016, Human molecular genetics.

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2020, Nature Communications.

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

D. Hernandez, M. Nalls, J. Hoenicka, 2019, npj Parkinson's Disease.

Anovel de novo intronic variant in ITPR1 causes Gillespie syndrome

David R. Murdock, Lauren S Blieden, J. Rosenfeld, 2021 .

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2019, npj Parkinson's Disease.

The expanding neurological phenotype of DNM1L-related disorders.

Michael F. Wangler, H. Bellen, L. Robak, 2018, Brain : a journal of neurology.

Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson's disease

C. Khor, J. Wiggs, L. Robak, 2023, medRxiv.

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.