Search details
1.
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Ann Neurol
; 96(1): 170-174, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38613459
2.
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Brain
; 2024 Mar 14.
Article
in English
| MEDLINE | ID: mdl-38481354
3.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain
; 146(10): 4025-4032, 2023 10 03.
Article
in English
| MEDLINE | ID: mdl-37337674
4.
Nerve biopsy in T-cell lymphoma with neurolymphomatosis: where and when.
Pract Neurol
; 24(3): 235-237, 2024 May 29.
Article
in English
| MEDLINE | ID: mdl-38272664
5.
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.
J Neurol Neurosurg Psychiatry
; 2023 Nov 18.
Article
in English
| MEDLINE | ID: mdl-37979968
6.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34518334
7.
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
J Peripher Nerv Syst
; 27(3): 215-224, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35837722
8.
Epidemiological and cohort study finds no association between COVID-19 and Guillain-Barré syndrome.
Brain
; 144(2): 682-693, 2021 03 03.
Article
in English
| MEDLINE | ID: mdl-33313649
9.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33415332
10.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Article
in English
| MEDLINE | ID: mdl-32040566
11.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
J Peripher Nerv Syst
; 25(3): 288-291, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32844461
12.
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Curr Opin Neurol
; 32(5): 641-650, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31343428
13.
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 94(4): 327-328, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36376020
14.
Unusual upper limb features in SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 175-177, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35419909
15.
Reply: Guillain-Barré syndrome, SARS-CoV-2 and molecular mimicry and Ongoing challenges in unravelling the association between COVID-19 and Guillain-Barré syndrome and Unclear association between COVID-19 and Guillain-Barré syndrome and Currently available data regarding the potential association between COVID-19 and Guillain-Barré syndrome.
Brain
; 144(5): e47, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33822006
16.
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Ann Clin Transl Neurol
; 11(3): 607-617, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38173284
17.
A Novel approach using O-CVP to treat paraneoplastic NMO spectrum disorder associated with follicular lymphoma.
BMJ Case Rep
; 15(11)2022 Nov 15.
Article
in English
| MEDLINE | ID: mdl-36379621
18.
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Elife
; 102021 11 19.
Article
in English
| MEDLINE | ID: mdl-34796871
19.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(5): 473-481, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32367058
20.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nat Genet
; 52(6): 640, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32457452