Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Parkinson's disease.

Kalia LV, Lang AE

Lancet (London, England) 2015; (386(9996)):896-912.

A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.

Azuma R, Ishikawa K, Hirata K, et al.

Movement disorders : official journal of the Movement Disorder Society 2015; (30(14)):1964-7 doi:10.1002/mds.26345.

Do patients with late-stage Parkinson's disease still respond to levodopa?

Fabbri M, Coelho M, Abreu D, et al.

Parkinsonism & related disorders 2016; (26()):10-6.

Combined use of a double-lumen tube and Fogarty catheter to prevent the endobronchial spread of infection: a case report.

Kim J, Lee H, Park H, Jeong CY

Korean journal of anesthesiology 2016; (69(6)):619-622 doi:10.4097/kjae.2016.69.6.619.

The diagnostic accuracy of the hummingbird and morning glory sign in patients with neurodegenerative parkinsonism.

Mueller C, Hussl A, Krismer F, et al.

Parkinsonism & related disorders 2018; (54()):90-94 doi:10.1016/j.parkreldis.2018.04.005.

PDE8B mutation is not associated with Parkinson's disease in a Taiwanese population.

Fan TS, Wu RM, Lin HI, et al.

Neurobiology of aging 2018; (71()):265.e15-265.e16 doi:10.1016/j.neurobiolaging.2018.05.024.

Gait, balance, and falls in Huntington disease.

Vuong K, Canning CG, Menant JC, Loy CT

Handbook of clinical neurology 2018; (159()):251-260 doi:10.1016/B978-0-444-63916-5.00016-1.

Atrophy in midbrain & cerebral/cerebellar pedunculi is characteristic for progressive supranuclear palsy - A double-validation whole-brain meta-analysis.

Albrecht F, Bisenius S, Neumann J, et al.

NeuroImage. Clinical 2019; (22()):101722 doi:10.1016/j.nicl.2019.101722.

Auditory synaptopathy, auditory neuropathy, and cochlear implantation.

Shearer AE, Hansen MR

Laryngoscope investigative otolaryngology 2019; (4(4)):429-440 doi:10.1002/lio2.288.

Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders.

Ni J, Yi X, Liu Z, et al.

Parkinsonism & related disorders 2019; (69()):94-98 doi:10.1016/j.parkreldis.2019.11.002.

Which Scale Best Detects Treatment Response of Tremor in Parkinsonism?

Pintér D, Forjaz MJ, Martinez-Martin P, et al.

Journal of Parkinson's disease 2020; (10(1)):275-282 doi:10.3233/JPD-191800.

Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.

Frey MK, Kahn RM, Chapman-Davis E, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020; (38(13)):1389-1397 doi:10.1200/JCO.19.02005.

Conventional Magnetic Resonance Imaging in the Diagnosis of Parkinsonian Disorders: A Meta-Analysis.

Lee W

Movement disorders clinical practice 2021; (8(2)):217-223 doi:10.1002/mdc3.13070.

The Emerging Role of Phosphodiesterases in Movement Disorders.

Erro R, Mencacci NE, Bhatia KP

Movement disorders : official journal of the Movement Disorder Society 2021; (36(10)):2225-2243 doi:10.1002/mds.28686.

Neuropathology and emerging biomarkers in corticobasal syndrome.

Koga S, Josephs KA, Aiba I, et al.

Journal of neurology, neurosurgery, and psychiatry 2022; doi:10.1136/jnnp-2021-328586.

Long-term efficacy of bilateral subthalamic deep brain stimulation in the parkinsonism of SCA 3: A rare case report.

Kuo MC, Tai CH, Tseng SH, Wu RM

European journal of neurology 2022; (29(8)):2544-2547 doi:10.1111/ene.15339.

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

Pérez-Dueñas B, Gorman K, Marcé-Grau A, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(11)):2197-2209 doi:10.1002/mds.29182.

Speech and Language outcomes in Auditory Neuropathy Spectrum Disorder (ANSD) children managed with amplification.

Ramanathan D, Mahomva C, Goldberg D, et al.

American journal of otolaryngology 2023; (44(2)):103753 doi:10.1016/j.amjoto.2022.103753.

Midbrain and pons MRI shape analysis and its clinical and CSF correlates in degenerative parkinsonisms: a pilot study.

Painous C, Pascual-Diaz S, Muñoz-Moreno E, et al.

European radiology 2023; (33(7)):4540-4551 doi:10.1007/s00330-023-09435-0.

Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.

Bohlega S, Abusrair AH, Al-Qahtani Z, et al.

Parkinsonism & related disorders 2023; (108()):105323 doi:10.1016/j.parkreldis.2023.105323.

Multi-Modal Rehabilitation Therapy in Parkinson's Disease and Related Disorders.

Saluja A, Goyal V, Dhamija RK

Annals of Indian Academy of Neurology 2023; (26(Suppl 1)):S15-S25 doi:10.4103/aian.aian_164_22.

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.

Iankova V, Sparber P, Rohani M, et al.

Brain : a journal of neurology 2024; (147(4)):1389-1398 doi:10.1093/brain/awad357.

Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.

Saffie Awad P, Teixeira-Dos-Santos D, Santos-Lobato BL, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(1)):6-16 doi:10.1002/mds.29614.

Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.

Agiannitopoulos K, Potska K, Katseli A, et al.

Cancers 2023; (15(21)) doi:10.3390/cancers15215218.

PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases.

Kalampokini S, Xiromerisiou G, Bargiotas P, et al.

Neuropediatrics 2024; (55(4)):217-223 doi:10.1055/a-2281-1822.

Huntington's Disease: A Report of an Interesting Case and Literature Review.

Sharma PK, Aram A, Polaka Y, Pandian V

Cureus 2024; (16(3)):e55443 doi:10.7759/cureus.55443.

Atypical Parkinsonian Syndromes: Structural, Functional, and Molecular Imaging Features.

Keir G, Roytman M, Mashriqi F, et al.

AJNR. American journal of neuroradiology 2024; (45(12)):1865-1877 doi:10.3174/ajnr.A8313.

Therapeutic drug monitoring in Parkinson's disease.

Müller T, Gerlach M, Hefner G, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2024; (131(10)):1247-1262 doi:10.1007/s00702-024-02828-5.

Prenatal and preimplantation genetic testing for monogenic kidney disorders.

Knoers NVAM

Kidney international 2025; (107(2)):255-261 doi:10.1016/j.kint.2024.06.031.

Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature.

Schaa KL, Thoeny R, Benson RJ, et al.

Journal of genetic counseling 2025; (34(3)):e70053 doi:10.1002/jgc4.70053.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Mania-Pâris L, Ewenczyk C, Nicolas G, et al.

Revue neurologique 2025; (181(6)):471-482 doi:10.1016/j.neurol.2025.05.001.

Stable two-year longitudinal clinical outcomes in LRRK2 G2019S non-manifest carriers in a remote nationwide study.

Barbosa W, Auinger P, Pawlik M, et al.

Parkinsonism & related disorders 2025; (138()):107969 doi:10.1016/j.parkreldis.2025.107969.

Levodopa-carbidopa intestinal gel for multiple system atrophy with motor fluctuations: a case series.

Iseki T, Nishikawa N, Ogawa T, et al.

Therapeutic advances in neurological disorders 2025; (18()):17562864251360048 doi:10.1177/17562864251360048.

Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.

Brewer S, Ramani PK, Arya K

Journal of child neurology 2026; (41(9)):1358-1364 doi:10.1177/08830738261416724.

Rehabilitation Interventions in Adults with Amyotrophic Lateral Sclerosis: A Review :.

Behroozinia M, Khosrawi S

Galen medical journal 2025; (14()):e3708 doi:10.31661/gmj.vi.3708.

Enteral Nutrition in Idiopathic Parkinson's Disease and Atypical Parkinsonism: A Systematic Review.

Lonergan B, Ciocca M, Schrag A, Tai Y

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70653.

Phosphodiesterase 8 (PDE8), a novel target for neurodegenerative diseases.

Zhao X, Fu YT, Qiu NZ, et al.

Cellular signalling 2026; (146()):112654 doi:10.1016/j.cellsig.2026.112654.

Regulatory Effects of the PDE8B Inhibitor PF-04957325 on Cognitive Impairment and Neuroinflammation in Aβ-Induced Alzheimer's Disease Mouse Models.

Liu Y, Li M, Yu H, et al.

Neurochemical research 2026; (51(4)).