Detalhe da pesquisa
1.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
2.
A Novel Focal Seizure Pattern Generated in Superficial Layers of the Olfactory Cortex.
J Neurosci
; 37(13): 3544-3554, 2017 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28264979
3.
Type II focal cortical dysplasia: Ex vivo 7T magnetic resonance imaging abnormalities and histopathological comparisons.
Ann Neurol
; 79(1): 42-58, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26448158
4.
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
J Peripher Nerv Syst
; 21(3): 142-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27231023
5.
The peculiar role of the A2V mutation in amyloid-ß (Aß) 1-42 molecular assembly.
J Biol Chem
; 289(35): 24143-52, 2014 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25037228
6.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Hum Mol Genet
; 22(7): 1417-23, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297359
7.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Am J Hum Genet
; 90(6): 1102-7, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608501
8.
NO-donor thiacarbocyanines as multifunctional agents for Alzheimer's disease.
Bioorg Med Chem
; 23(15): 4688-4698, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26078011
9.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brain
; 137(Pt 1): 57-68, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24316510
10.
Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration.
PLoS Genet
; 8(11): e1003021, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23144624
11.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Hum Mol Genet
; 21(24): 5294-305, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983956
12.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Am J Hum Genet
; 88(5): 566-73, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549341
13.
Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 85(9): 1009-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24591457
14.
Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation.
Epilepsia
; 55(6): e56-9, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24779634
15.
Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.
J Peripher Nerv Syst
; 18(2): 185-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23781967
16.
Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study.
Brain
; 135(Pt 8): 2337-49, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734123
17.
APP mutations in the Aß coding region are associated with abundant cerebral deposition of Aß38.
Acta Neuropathol
; 124(6): 809-21, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143229
18.
Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.
J Peripher Nerv Syst
; 17(4): 422-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23279346
19.
Optimal plasma progranulin cutoff value for predicting null progranulin mutations in neurodegenerative diseases: a multicenter Italian study.
Neurodegener Dis
; 9(3): 121-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22123177
20.
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Acta Neuropathol
; 120(6): 803-12, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20842367