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Auteur Stojkovic T |
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Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
Querin G, Lenglet T, Debs R, et al.
Journal of neurology, 2021
Revue : Journal of neurology Titre : Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study Type de document : Article Auteurs : Querin G ; Lenglet T ; Debs R ; Stojkovic T ; Behin A ; Salachas F ; Le Forestier N ; Amador MDM ; Bruneteau G ; Laforêt P ; Blancho S ; Marchand-Pauvert V ; Bede P ; Hogrel JY ; Pradat PF Editeur : Germany Année de publication : 02/01/2021 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33388927 / DOI : 10.1007/s00415-020-10332-5
N° Profil MNM : 2020123 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33388927 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Reyngoudt H, Marty B, Boisserie JM, et al.
European radiology, 2020
Revue : European radiology Titre : Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases Type de document : Article Auteurs : Reyngoudt H ; Marty B ; Boisserie JM ; Le Louër J ; Koumako C ; Baudin PY ; Wong B ; Stojkovic T ; Behin A ; Gidaro T ; Allenbach Y ; Benveniste O ; Servais L ; Carlier PG Editeur : Germany Année de publication : 21/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33219846 / DOI : 10.1007/s00330-020-07487-0
N° Profil MNM : 2020112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33219846 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
Senderek J, Lassuthova P, Kabzinska D, et al.
Neurology, 2020
Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Oculopharyngeal Muscular Dystrophy : Synonym: OPMD
Trollet C, Boulinguiez A, Roth F, et al.
GeneReviews® [Internet], 2020
Revue : GeneReviews® [Internet] Titre : Oculopharyngeal Muscular Dystrophy : Synonym: OPMD Type de document : Article Auteurs : Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler-Browne G ; Evangelista T ; Lacau St Guily J ; Richard P Année de publication : 22/10/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie musculaire ; dystrophie musculaire oculopharyngée ; épidémiologie ; maladie neuromusculaire ; physiopathologie ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: March 8, 2001; Last Update: October 22, 2020.
Clinical characteristics.
Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and pharynx, respectively. For the vast majority of individuals with typical OPMD, the mean age of onset of ptosis is usually 48 years and of dysphagia 50 years; in 5%-10% of individuals with severe OPMD, onset of ptosis and dysphagia occur before age 45 years and is associated with lower limb girdle weakness starting around age 60 years. Swallowing difficulties, which determine prognosis, increase the risk for potentially life-threatening aspiration pneumonia and poor nutrition. Other manifestations as the disease progresses can include limitation of upward gaze, tongue atrophy and weakness, chewing difficulties, wet voice, facial muscle weakness, axial muscle weakness, and proximal limb girdle weakness predominantly in lower limbs. Some individuals with severe involvement will eventually need a wheelchair. Neuropsychological tests have shown altered scores in executive functions in some.
Diagnosis/testing.
The diagnosis of OPMD is established in a proband with a suggestive phenotype in whom either of the following genetic findings are identified: a heterozygous GCN trinucleotide repeat expansion of 11 to 18 repeats in the first exon of PABPN1 (~90% of affected individuals) or biallelic GCN trinucleotide repeat expansions that are either compound heterozygous (GCN[11] with a second expanded allele) or homozygous (GCN[11]+[11], GCN[12]+[12], GCN[13]+[13], etc.) (~10% of affected individuals).
Management.
Treatment of manifestations: Treatment for ptosis may include blepharoplasty by either resection of the levator palpebrea aponeurosis or frontal suspension of the eyelids. The initial treatment for dysphagia is dietary modification; surgical intervention for dysphagia should be considered when symptomatic dysphagia has a significant impact on quality of life. Physical and occupational therapy are encouraged; assistive devices may be necessary to prevent falls and assist with walking and mobility. Neuropsychological support as needed.
Surveillance: Routine evaluation of: neuromuscular and oculomotor involvement; dysphagia including nutritional status and diet; respiratory function given the increased risk for both aspiration and nocturnal hypoventilation; and cognitive function including development of psychiatric symptoms.
Genetic counseling.
OPMD is inherited in an autosomal dominant manner. The risk to sibs of a proband depends on the genetic status of the parents of the proband:
If one parent of a proband is heterozygous for a GCN repeat expansion in PABPN1 (GCN[11_18]+ [10]) and the other parent has two normal alleles (GCN[10]+[10]), the risk to the sibs of inheriting a GCN repeat expansion is 50%.
If both parents of the proband are heterozygous for a GCN repeat expansion, sibs have a 25% risk of inheriting two GCN repeat expansions and a 50% risk of inheriting one GCN repeat expansion.
If one parent of the proband has biallelic GCN repeat expansions and the other parent has two normal alleles, all sibs will inherit a GCN repeat expansion.
If one parent of the proband has biallelic GCN repeat expansions and the other parent is heterozygous for a GCN repeat expansion, sibs of the proband have a 50% risk of inheriting biallelic GCN repeat expansions and 50% risk of inheriting one GCN repeat expansion.
Sibs who inherit either one or two GCN repeat expansions will be affected.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301305 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Metformin rescues muscle function in BAG3 myofibrillar myopathy models
Ruparelia AA, McKaige EA, Williams C, et al.
Autophagy, 2020
Revue : Autophagy Titre : Metformin rescues muscle function in BAG3 myofibrillar myopathy models Type de document : Article Auteurs : Ruparelia AA ; McKaige EA ; Williams C ; Schulze KE ; Fuchs M ; Oorschot V ; Lacène E ; Meregalli M ; Lee C ; Serrano RJ ; Baxter EC ; Monro K ; Torrente Y ; Ramm G ; Stojkovic T ; Lavoie JN ; Bryson-Richardson RJ Editeur : United States Année de publication : 19/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33030392 / DOI : 10.1080/15548627.2020.1833500
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33030392 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, et al.
European journal of neurology, 2020
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Avancées dans les myopathies distales
Myoinfo (AFM-Téléthon), Stojkovic T
Avancées de la recherche, Savoir & Comprendre, 2020
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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
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Confounding clinical presentation and different disease progression in CMT4B1
Guimaraes-Costa R, Villar-Quiles RN, Latour P, et al.
Neuromuscular disorders : NMD, 2020
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A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Perrin A, Metay C, Villanova M, et al.
Annals of clinical and translational neurology, 2020
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Cerino M, Campana-Salort E, Salvi A, et al.
Neuropathology and applied neurobiology, 2020
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Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations
Safka Brozkova D, Stojkovic T, Haberlova J, et al.
European journal of neurology, 2020
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Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Masingue M, Arzel M, Sternberg D, et al.
Muscle & Nerve, 2020
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network
Solé G, Salort-Campana E, Pereon Y, et al.
Revue neurologique, 2020, 176, 6, p 507
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Développement de nouveaux marqueurs chez les patients SMA type III et IV
Querin G, Lenglet T, Debs R, et al.
Revue neurologique, 2020
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Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Reference article: Sleep-related breathing disorders in facioscapulohumeral dystrophy
Santos DR, Boussaïd G, Stojkovic T, et al.
Sleep and Breathing, 2019
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A high prevalence of arterial hypertension in patients with mitochondrial diseases
Chong-Nguyen C, Stalens C, Goursot Y, et al.
Journal of inherited metabolic disease, 2019
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Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Gonzalez-del Angel A, Bisciglia M, Vargas-Canas S, et al.
Frontiers in neurology, 2019, 10, 1049
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
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Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans NC, van der Bilt RC, IJspeert J, et al.
Journal of neurology, 2019
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
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Congenital myopathies are mainly associated with a mild cardiac phenotype
Petri H, Wahbi K, Witting N, et al.
Journal of neurology, 2019, 266, 6, p 1367
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FSHD1 and FSHD2 form a disease continuum
Sacconi S, Briand-Suleau A, Gros M, et al.
Neurology, 2019, 92, 19
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Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.
Murphy AP, Morrow J, Dahlqvist JR, et al.
Annals of clinical and translational neurology, 2019, 6, 6, p 1033
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