Detalhe da pesquisa
1.
Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.
Hum Mol Genet
; 28(21): 3528-3542, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411673
2.
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
Eur J Neurol
; 25(1): 154-163, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29029362
3.
A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
J Neurol Neurosurg Psychiatry
; 87(6): 620-7, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26243339
4.
Nerve conduction velocity in CMT1A: what else can we tell?
Eur J Neurol
; 23(10): 1566-71, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412484
5.
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
J Neurol Neurosurg Psychiatry
; 86(8): 873-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25430934
6.
Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.
Eur J Neurol
; 22(12): 1556-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26227902
7.
Inherited Neuropathies.
Semin Neurol
; 35(4): 407-23, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26502764
8.
Is overwork weakness relevant in Charcot-Marie-Tooth disease?
J Neurol Neurosurg Psychiatry
; 85(12): 1354-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659795
9.
CIDP: mimics and chameleons.
Pract Neurol
; 14(6): 399-408, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25035142
10.
Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps.
NMR Biomed
; 25(2): 262-70, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796708
11.
Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies.
J Neurol Neurosurg Psychiatry
; 83(1): 29-32, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21613652
12.
MRI shows increased sciatic nerve cross sectional area in inherited and inflammatory neuropathies.
J Neurol Neurosurg Psychiatry
; 82(11): 1283-6, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20971754
13.
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Science
; 373(6559): 1156-1161, 2021 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34516839
14.
Are we prepared for clinical trials in Charcot-Marie-Tooth disease?
Brain Res
; 1729: 146625, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31899213
15.
Routine blood monitoring in maintenance immunoglobulin treatment of inflammatory neuropathy: Is it clinically relevant?
J Neurol Sci
; 408: 116527, 2020 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31677558
16.
Diagnosis and new treatments in genetic neuropathies.
J Neurol Neurosurg Psychiatry
; 80(12): 1304-14, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19917815
17.
Spinal Stenosis in Familial Transthyretin Amyloidosis.
J Neuromuscul Dis
; 6(2): 267-270, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30856118
18.
Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
Clin Genet
; 83(4): 388-91, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22765307
19.
The use of nerve and muscle biopsy in the diagnosis of vasculitis: a 5 year retrospective study.
J Neurol Neurosurg Psychiatry
; 79(12): 1376-81, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18819942
20.
Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Neuromuscul Disord
; 28(9): 757-765, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072201