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

Epilepsy

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report

Brain Dev.

Hayashida T, Saito Y, Ishii A, Yamada H, Itakura A, Minato T, Fukuyama T, Maegaki Y, Hirose S

doi: 10.1016/

Further Publications NeurologyFurther Publications Psychiatry

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

doi: 10.1080/

Psychosis and Schizophrenia

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Endocrinol Diabetes Metab Case Rep.

Chaudhary DP, Rijal T, Jha KK, Saluja H

doi: 10.1530/EDM-16-0096.

Multiple Sclerosis

The Effect of Disease Modifying Therapies on Disease Progression in Patients with Relapsing-Remitting Multiple Sclerosis: A Systematic Review and Meta-Analysis

PLoS One.

Tsivgoulis G, Katsanos AH, Grigoriadis N, Hadjigeorgiou GM, Heliopoulos I, Papathanasopoulos P, Kilidireas C, Voumvourakis K, Dardiotis E; HELANI (Hellenic Academy of Neuroimmunology)

doi: 10.1371/

Aging and Cognitive FunctionsEpilepsy

Intractable Epilepsy and Progressive Cognitive Decline in a Young Man

JAMA Neurol.

Cohen AL, Jones LK, Parisi JE, Klaas JP

doi: 10.1001/

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-

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/

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.

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.

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