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.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36943151
3.
Association between brain and upper cervical spinal cord atrophy assessed by MRI and disease aggressiveness in amyotrophic lateral sclerosis.
Neuroradiology
; 65(9): 1395-1403, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37458788
4.
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
J Neurol Neurosurg Psychiatry
; 92(9): 942-949, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33785574
5.
Effect of familial clustering in the genetic screening of 235 French ALS families.
J Neurol Neurosurg Psychiatry
; 92(5): 479-484, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33408239
6.
Comparison of MRI and motor evoked potential with triple stimulation technique for the detection of brachial plexus abnormalities in multifocal motor neuropathy.
Muscle Nerve
; 61(3): 325-329, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31792993
7.
Quantitative muscle MRI study of patients with sporadic inclusion body myositis.
Muscle Nerve
; 61(4): 496-503, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31953869
8.
Quantitative Brain Sodium MRI Depicts Corticospinal Impairment in Amyotrophic Lateral Sclerosis.
Radiology
; 292(2): 422-428, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31184559
9.
Region-specific impairment of the cervical spinal cord (SC) in amyotrophic lateral sclerosis: A preliminary study using SC templates and quantitative MRI (diffusion tensor imaging/inhomogeneous magnetization transfer).
NMR Biomed
; 30(12)2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28926131
10.
Global motor unit number index sum score for assessing the loss of lower motor neurons in amyotrophic lateral sclerosis.
Muscle Nerve
; 56(2): 202-206, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28164325
11.
New strategy for improving the diagnostic sensitivity of repetitive nerve stimulation in myasthenia gravis.
Muscle Nerve
; 55(4): 532-538, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27511866
12.
Triple-stimulation technique improves the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.
Muscle Nerve
; 51(4): 541-8, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25571892
13.
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Brain
; 137(Pt 8): 2329-45, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24934289
14.
Association between structural and functional corticospinal involvement in amyotrophic lateral sclerosis assessed by diffusion tensor MRI and triple stimulation technique.
Muscle Nerve
; 49(4): 551-7, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-23873504
15.
Face to Face: deciphering facial involvement in inclusion body myositis.
J Neurol
; 271(1): 410-418, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37740740
16.
Could the motor unit number index be an early prognostic biomarker for amyotrophic lateral sclerosis?
Clin Neurophysiol
; 163: 47-55, 2024 Apr 26.
Article
in English
| MEDLINE | ID: mdl-38703699
17.
Neurofilament Light Chain Levels Interact with Neurodegenerative Patterns and Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis.
AJNR Am J Neuroradiol
; 45(4): 494-503, 2024 Apr 08.
Article
in English
| MEDLINE | ID: mdl-38548305
18.
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Brain
; 135(Pt 1): 23-34, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22189565
19.
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Front Genet
; 14: 1242277, 2023.
Article
in English
| MEDLINE | ID: mdl-38155714
20.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Am J Hum Genet
; 85(3): 338-53, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19716112