Search details
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38696726
2.
Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study.
Rheumatology (Oxford)
; 63(2): 506-515, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-37462538
3.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Article
in English
| MEDLINE | ID: mdl-38079474
4.
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
5.
Usefulness and prognostic value of diagnostic tests in patients with possible chronic inflammatory demyelinating polyradiculoneuropathy.
Muscle Nerve
; 66(3): 304-311, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35661382
6.
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
; 22(12): 2029-2040, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32778822
7.
Comment on: Inaugural dropped head syndrome and camptocormia in inflammatory myopathies: a retrospective study: Reply.
Rheumatology (Oxford)
; 63(4): e144-e145, 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-37647649
8.
Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.
Am J Kidney Dis
; 71(5): 754-757, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29224958
9.
Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features.
J Neurol Neurosurg Psychiatry
; 89(5): 499-505, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29070644
10.
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Hum Mutat
; 38(5): 556-568, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28144995
11.
Diagnostic utility of somatosensory evoked potentials in chronic polyradiculopathy without electrodiagnostic signs of peripheral demyelination.
Muscle Nerve
; 53(1): 78-83, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-25908550
12.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
N Engl J Med
; 365(25): 2377-88, 2011 Dec 22.
Article
in English
| MEDLINE | ID: mdl-22187985
13.
Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease.
J Neurol
; 270(11): 5545-5560, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37540278
14.
Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study.
J Neurol
; 270(12): 5819-5826, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37592137
15.
Spinal Charcot-Marie-Tooth disease: a reappraisal.
Muscle Nerve
; 46(4): 604-9, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22987707
16.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Article
in English
| MEDLINE | ID: mdl-33749658
17.
The pattern and diagnostic criteria of sensory neuronopathy: a case-control study.
Brain
; 132(Pt 7): 1723-33, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19506068
18.
[Serum antibody profiles against gangliosides and sulfatide in peripheral neuropathies: evaluation of a new immunoassay]. / Les profils autoanticorps anti-gangliosides et anti-sulfatides associés aux neuropathies périphériques : évaluation d'un nouveau réactif.
Ann Biol Clin (Paris)
; 68(6): 675-80, 2010.
Article
in French
| MEDLINE | ID: mdl-21159581
19.
A new MRI marker of ataxia with oculomotor apraxia.
Eur J Radiol
; 110: 187-192, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30599859
20.
FSHD1 and FSHD2 form a disease continuum.
Neurology
; 92(19): e2273-e2285, 2019 05 07.
Article
in English
| MEDLINE | ID: mdl-30979860