Thomas Bourinaris

发表

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

D. Smedley, N. Wood, P. Chinnery, 2020, European Journal of Human Genetics.

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature

H. Houlden, Thomas Bourinaris, 2018, Movement Disorders Clinical Practice.

Some pathogenic SETX variants are partially conserved during evolution.

H. Houlden, S. Naz, Thomas Bourinaris, 2020, Gene.

Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease

Victor R. Martinez, C. Blackstone, M. Stamelou, 2021, Movement disorders : official journal of the Movement Disorder Society.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach

S. Efthymiou, H. Houlden, A. Tariq, 2019, Neurological Sciences.

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia

S. Efthymiou, H. Houlden, V. Salpietro, 2020, Journal of the Neurological Sciences.

Neuronal intranuclear inclusion disease is genetically heterogeneous

Nick C Fox, J. Hardy, D. Dickson, 2020, Annals of clinical and translational neurology.

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

A. Singleton, D. Hughes, S. Efthymiou, 2017, Orphanet Journal of Rare Diseases.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

D. Segal, J. Lipton, M. Sahin, 2020, Human molecular genetics.

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco

S. Efthymiou, H. Houlden, V. Salpietro, 2021, Klinische Pädiatrie.

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders

S. Efthymiou, H. Houlden, V. Salpietro, 2021, European Journal of Human Genetics.

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease

I. Blumcke, N. Wood, L. Chávez-Gutiérrez, 2021, Alzheimer's & dementia.

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data

G. Patrinos, E. Dardiotis, G. Xiromerisiou, 2020, Tremor and other hyperkinetic movements.

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.

S. Efthymiou, R. Maroofian, H. Houlden, 2020, Brain : a journal of neurology.

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

H. Houlden, E. Dardiotis, G. Hadjigeorgiou, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Henrik, Houlden, J. Rothman, 2019 .

SORL1 mutation in a Greek family with Parkinson's disease and dementia

J. Hardy, H. Houlden, G. Hadjigeorgiou, 2021, Annals of clinical and translational neurology.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

J. Rothman, D. Kullmann, D. Timmann, 2019, Annals of neurology.