Pascal Laforet
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Explore the profile of Pascal Laforet including associated specialties, affiliations and a list of published articles.
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232
Citations
4637
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Recent Articles
1.
van der Beek N, Theunissen M, van den Hout J, Pijnappel W, Schoser B, Laforet P, et al.
Lancet Neurol
. 2025 Feb;
24(3):230-245.
PMID: 39986311
Metabolic storage disorders, including lysosomal storage disorders, pose complex challenges in management due to their progressive and life-threatening nature. Although enzyme replacement therapy has substantially improved outcomes for patients with...
2.
Nicolas M, Giret C, Pellieux S, Toutain A, Bergemer-Fouquet A, Laforet P, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101197.
PMID: 39981214
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance...
3.
Kruijshaar M, House T, Schoser B, Laforet P, Theunissen M, Wenninger S, et al.
Orphanet J Rare Dis
. 2025 Feb;
20(1):74.
PMID: 39953542
In a recent publication by Klein et al., the need for real-world data on rare diseases is highlighted. We strongly support this need, and the collaboration with the patient community...
4.
Gerard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39725690
The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied...
5.
Magot A, Reignier A, Binois O, Bedat-Millet A, Davion J, Deberge L, et al.
Orphanet J Rare Dis
. 2024 Dec;
19(1):476.
PMID: 39707482
Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one...
6.
Imbard A, de Calbiac H, Le Guillou E, Laforet P, Schiff M, Brassier A, et al.
J Inherit Metab Dis
. 2024 Dec;
48(1):e12819.
PMID: 39648745
Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A...
7.
-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, et al.
J Neurol Neurosurg Psychiatry
. 2024 Oct;
PMID: 39448255
Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly...
8.
van Kooten H, Horton M, Wenninger S, Babacic H, Schoser B, Lefeuvre C, et al.
Eur J Neurol
. 2024 Aug;
31(12):e16397.
PMID: 39205420
Background And Purpose: The Rasch-Built Pompe-Specific Activity (R-PAct) scale is a patient-reported outcome measure specifically designed to quantify the effects of Pompe disease on daily life activities, developed for use...
9.
Retailleau E, Lefeuvre C, Antonio M, Bouhour F, Tard C, Salort-Campana E, et al.
Eur J Neurol
. 2024 Aug;
31(10):e16428.
PMID: 39109844
Background And Purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no...
10.
Voermans N, Bhai S, Laforet P, Vissing J
Muscle Nerve
. 2024 Jul;
70(4):727-730.
PMID: 39039853
No abstract available.