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Auteur Tawil R |
Documents disponibles écrits par cet auteur (110)



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Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial
Heatwole C, Luebbe E, Rosero S, et al.
Neurology, 2020
Revue : Neurology Titre : Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial Type de document : Article Auteurs : Heatwole C ; Luebbe E ; Rosero S ; Eichinger K ; Martens W ; Hilbert J ; Dekdebrun J ; Dilek N ; Zizzi C ; Johnson N ; Puwanant A ; Tawil R ; Schifitto G ; Beck CA ; Richeson JF ; Zareba W ; Thornton C ; McDermott MP ; Moxley R 3rd Editeur : United States Année de publication : 12/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33046619 / DOI : 10.1212/WNL.0000000000011002
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33046619 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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P38 alpha Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy
Rojas LA, Valentine E, Accorsi A, et al.
The Journal of pharmacology and experimental therapeutics, 2020
Revue : The Journal of pharmacology and experimental therapeutics Titre : P38 alpha Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy Type de document : Article Auteurs : Rojas LA ; Valentine E ; Accorsi A ; Maglio J ; Shen N ; Robertson A ; Kazmirski S ; Rahl P ; Tawil R ; Cadavid D ; Thompson LA ; Ronco L ; Chang A ; Cacace A ; Wallace O Editeur : United States Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32576599 / DOI : 10.1124/jpet.119.264689
N° Profil MNM : 2020062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32576599 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Facioscapulohumeral Muscular Dystrophy : Synonym: FSH Muscular Dystrophy
Preston MK, Tawil R, Wang LH
GeneReviews® [Internet], 2020
Revue : GeneReviews® [Internet] Titre : Facioscapulohumeral Muscular Dystrophy : Synonym: FSH Muscular Dystrophy Type de document : Article Auteurs : Preston MK ; Tawil R ; Wang LH Année de publication : 06/02/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; diagnostic ; diagnostic différentiel ; dystrophie musculaire ; dystrophie musculaire facio-scapulo-humérale ; épidémiologie ; étiologie ; histoire naturelle de la maladie ; maladie neuromusculaire ; prise en charge thérapeutique Résumé : Initial Posting: March 8, 1999; Last Update: February 6, 2020.
Clinical characteristics.
Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexors of the foot. Severity is highly variable. Weakness is slowly progressive and approximately 20% of affected individuals eventually require a wheelchair. Life expectancy is not shortened.
Diagnosis/testing.
The diagnosis of FSHD1 is established in a proband with characteristic clinical features by identification of a heterozygous pathogenic contraction of the D4Z4 repeat array in the subtelomeric region of chromosome 4q35 on a chromosome 4 permissive haplotype. The diagnosis of FSHD2 is established in a proband by identification of hypomethylation of the D4Z4 repeat array in the subtelomeric region of chromosome 4q35 on a chromosome 4 permissive haplotype. Hypomethylation of the D4Z4 repeat array can be due to a heterozygous pathogenic variant in SMCHD1 or DNMT3B.
Management.
Treatment of manifestations: Consultation with a physical therapist to establish appropriate exercise regimen; ankle/foot orthoses to improve mobility and prevent falls; occupational and speech therapy in individuals with infantile onset; surgical fixation of the scapula to the chest wall may improve range of motion of the arms over the short term; management of chronic pain by physical therapy and medication; monitoring respiratory function; lubricants to prevent drying of the sclera or taping the eyes shut during sleep to treat exposure keratitis; treatment for retinal vasculopathy as per ophthalmologist; standard treatment of sensorineural hearing loss.
Surveillance: Annual physical therapy assessment; Pain should be assessed at regular visits to the primary care physician or physical therapist; screening for hypoventilation in individuals with abnormal PFTs, severe proximal weakness, kyphoscoliosis, wheelchair dependence, or comorbid disease affecting ventilation; pulmonary consultation for FVC
Genetic counseling.
FSHD1 is inherited in an autosomal dominant manner. Approximately 70%-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10%-30% of affected individuals have FSHD as the result of a de novo deletion. Offspring of an affected individual have a 50% chance of inheriting the deletion. Prenatal testing for pregnancies at increased risk is possible if the D4Z4 pathogenic contraction has been identified in the family. FSHD2 is inherited in a digenic manner.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301616 N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/20301616 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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MRI Correlates with Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy
Hamel J, Lee P, Glenn MD, et al.
Muscle & Nerve, 2019
Revue : Muscle & Nerve Titre : MRI Correlates with Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy Type de document : Article Auteurs : Hamel J ; Lee P ; Glenn MD ; Burka T ; Choi IY ; Friedman S ; Shaw D ; McCalley A ; Herbelin L ; Dimachkie MM ; Lemmers R ; van der Maarel SM ; Barohn RJ ; Tawil R ; Statland JM Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : dystrophie musculaire ; dystrophie musculaire facio-scapulo-humérale ; étude de cohorte ; étude observationnelle ; IRM ; maladie neuromusculaire ; marqueur biologique ; myographie d'impedance electrique Pubmed / DOI : Pubmed : 31884698 / DOI : 10.1002/mus.26792
N° Profil MNM : 2019122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31884698 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
van der Wal E, den Hamer B, van der Vliet PJ, et al.
Stem cell research, 2019, 40
Revue : Stem cell research, 40 Titre : Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients Type de document : Article Auteurs : van der Wal E ; den Hamer B ; van der Vliet PJ ; Tok M ; Brands T ; Eussen B ; Lemmers RJLF ; Freund C ; de Klein A ; Buijsen RAM ; van Roon-Mom WMC ; Tawil R ; van der Maarel SM ; de Greef JC Editeur : England Année de publication : 10/2019 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31518905 / DOI : 10.1016/j.scr.2019.101560
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31518905 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
LoRusso S, Johnson NE, McDermott MP, et al.
BMC neurology, 2019, 19, 1, p 224
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Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD)
Hamel J, Johnson N, Tawil R, et al.
Neurology, 2019
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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, et al.
Journal of medical genetics, 2019
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Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy.
Oliva J, Galasinski S, Richey A, et al.
The Journal of pharmacology and experimental therapeutics, 2019
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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Mul K, Mul K, Lemmers RJLF, et al.
Neurology, 2018
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Andersen-Tawil Syndrome : Synonym: Long QT Syndrome Type 7 (LQTS Type 7)
Veerapandiyan A, Statland JM, Tawil R
GeneReviews® [Internet], 2018
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Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures
Lim JW, Wong CJ, Yao Z, et al.
Human molecular genetics, 2018
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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
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Facioscapulohumeral muscular dystrophy functional composite outcome measure
Eichinger K, Heatwole C, Iyadurai S, et al.
Muscle & Nerve, 2018
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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Lemmers RJ, van der Vliet PJ, Balog J, et al.
European journal of human genetics : EJHG, 2018, 26, 1, p 94
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Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Lemmers RJLF, van der Vliet PJ, Vreijling JP, et al.
Human molecular genetics, 2018, 27, 20, p 3488
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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
de Greef JC, Krom YD, den Hamer B, et al.
Human molecular genetics, 2018, 27, 4, p 716
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Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments
Hamel J, Hamel J, Tawil R
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2018, 15, 4, p 863
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A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
Crow RA, Hart KA, McDermott MP, et al.
Trials, 2018, 19, 1
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Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Guglieri M, Bushby K, McDermott MP, et al.
Contemporary clinical trials, 2017, 58, p 34
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High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2
Hilbert JE, Barohn RJ, Clemens PR, et al.
Neurology, 2017, 89, 13, p 1348
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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Mason AG, Slieker RC, Balog J, et al.
Skeletal Muscle, 2017, 7, 1
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard ML, Lemmers RJ, Balog J, et al.
American journal of human genetics, 2016, 98, 5, p 1020
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Facioscapulohumeral Muscular Dystrophy
Statland JM, Tawil R
Continuum (Minneapolis, Minn.), 2016, 22, 6, p 1916
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