TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature

Alzheimer’s Disease

Frontal Variant of Alzheimer's Disease: A Report of a Novel PSEN1 Mutation

J Alzheimers Dis.

Monacelli F, Martella L, Parodi MN, Odetti P, Fanelli F, Tabaton M

doi: 10.3233/JAD-190363.

Epilepsy

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer

J Neurol.

Tonin R, Catarzi S, Caciotti A, Procopio E, Marini C, Guerrini R, Morrone A

doi: 10.1007/s00415-018-9084-4.

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

BMC Med Genet.

Elsaid M, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A

doi: 10.1186/s12881-

Visual signs and symptoms in patients with the visual variant of Alzheimer disease

BMC Ophthalmol.

Kaeser PF, Ghika J, Borruat FX

doi: 10.1186/s12886-015-0060-9.

Autism

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder

J Peripher Nerv Syst.

Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM

doi: 10.1111/jns.12235.

Alzheimer’s DiseaseDementia

Creutzfeldt-Jakob Disease Mimicking Alzheimer Disease and Dementia With Lewy Bodies-Findings of FDG PET With 3-Dimensional Stereotactic Surface Projection

Clin Nucl Med.

Miyazawa N

doi: 10.1097/RLU.

Autism

A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report

J Med Case Rep.

Gruhl SL, Sharma P, Han TS

doi: 10.1186/s13256-018-1863-0.

Further Publications NeurologyFurther Publications Psychiatry

Orbital Rosai-Dorfman disease initially diagnosed as IgG4-related disease: a case report

Acta Neuropathol Commun.

Iyengar NS, Golub D, McQuinn MW, Hill T, Tang K, Gardner SL, Harter DH, Sen C, Staffenberg DA, Thomas K, Elkin Z, Belinsky I, William C

doi: 10.1186/s40478-020-00995-6.

Bipolar DisorderDementia

Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report

Amyotroph Lateral Scler Frontotemporal Degener.

Rubino E, Vacca A, Gallone S, Govone F, Zucca M, Gai A, Ferrero P, Fenoglio P, Giordana MT, Rainero I

doi: 10.1080/

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