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Auteur Horvath R |
Documents disponibles écrits par cet auteur



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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
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(mauvais) 15 (excellent)
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A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease
Edgar JR, Ho AK, Laura M, et al.
Acta neuropathologica communications, 2020, 8, 1, p 165
Revue : Acta neuropathologica communications, 8, 1 Titre : A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease Type de document : Article Auteurs : Edgar JR ; Ho AK ; Laura M ; Horvath R ; Reilly MM ; Luzio JP ; Roberts RC Année de publication : 15/10/2020 Pages : p 165 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33059769 / DOI : 10.1186/s40478-020-01043-z
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33059769 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development
Thompson R, Spendiff S, Roos A, et al.
The Lancet. Neurology, 2020, 19, 6, p 522
Revue : The Lancet. Neurology, 19, 6 Titre : Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development Type de document : Article Auteurs : Thompson R ; Spendiff S ; Roos A ; Bourque PR ; Warman Chardon J ; Kirschner J ; Horvath R ; Lochmuller H Editeur : England Année de publication : 06/2020 Pages : p 522 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32470424 / DOI : 10.1016/S1474-4422(20)30028-4
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32470424 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Metabolic effects of bezafibrate in mitochondrial disease
Steele H, Gomez-Duran A, Pyle A, et al.
EMBO Molecular Medicine, 2020, 12, 3
Revue : EMBO Molecular Medicine, 12, 3 Titre : Metabolic effects of bezafibrate in mitochondrial disease Type de document : Article Auteurs : Steele H, Auteur ; Gomez-Duran A ; Pyle A ; Hopton S ; Newman J ; Stefanetti RJ ; Charman SJ ; Parikh JD ; He L ; Viscomi C ; Jakovljevic DG ; Hollingsworth KG ; Robinson AJ ; Taylor RW ; Bottolo L ; Horvath R ; Chinnery PF Editeur : England Année de publication : 03/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32107855 / DOI : 10.15252/emmm.201911589
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32107855 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort S, Mohassel P, Laugwitz L, et al.
American journal of medical genetics. Part A, 2020
Revue : American journal of medical genetics. Part A Titre : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome Type de document : Article Auteurs : Donkervoort S ; Mohassel P ; Laugwitz L ; Zaki MS ; Kamsteeg EJ ; Maroofian R ; Chao KR ; Verschuuren-Bemelmans CC ; Horber V ; Fock AJM ; McCarty RM ; Jain MS ; Biancavilla V ; McMacken G ; Nalls M ; Voermans NC ; Elbendary HM ; Snyder M ; Cai C ; Lehky TJ ; Stanley V ; Iannaccone ST ; Foley AR ; Lochmuller H ; Gleeson J ; Houlden H ; Haack TB ; Horvath R ; Bonnemann CG Editeur : United States Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32776697 / DOI : 10.1002/ajmg.a.61765
N° Profil MNM : 2020081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32776697 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester N, Rattihalli R, Horvath R, et al.
Journal of Neuromuscular Diseases, 2020, 7, 2, p 137
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Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'
Jennings MJ, Lochmuller A, Atalaia A, et al.
Journal of Neuromuscular Diseases, 2020
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia A, Thompson R, Corvo A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 206
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A multicenter retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Pareyson D, Stojkovic T, Reilly MM, et al.
Annals of neurology, 2019, p 55
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Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
Kolbel H, Hathazi D, Jennings M, et al.
Frontiers in neurology, 2019, 10, p 470
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MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics
Larrea D, Pera M, Gonelli A, et al.
Human molecular genetics, 2019, 28, 11, p 1782
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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
Burns DT, Donkervoort S, Müller JS, et al.
American journal of human genetics, 2018, 102, 5, p 858
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
Bartsakoulia M, Pyle A, Troncosco D, et al.
Human molecular genetics, 2018, 27, 7, p 1186
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PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease
Juneja M, Azmi A, Baets J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 8, p 870
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Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases
Roos A, Roos A, Thompson R, et al.
Proteomics. Clinical applications, 2018, 12, 2
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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Panosyan FB, Laura M, Rossor AM, et al.
Neurology, 2017, 89, 9, p 927
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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Manole A, Jaunmuktane Z, Hargreaves I, et al.
Brain : a journal of neurology, 2017, 140, 11, p 2820
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Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A
Fledrich R, Mannil M, Leha A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, 88, 11, p 941
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Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy
Lewis-Smith DJ, Duff J, Pyle A, et al.
Neurology. Genetics, 2016, 2, 6
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Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
Whittaker RG, Herrmann DN, Bansagi B, et al.
Neurology, 2015, 85, 22, p 1964
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Phenotypic variability of TRPV4 related neuropathies
Evangelista T, Bansagi B, Pyle A, et al.
Neuromuscular disorders : NMD, 2015, 25, 6, p 516
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Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2
Cottenie E, Kochanski A, Jordanova A, et al.
American journal of human genetics, 2014, 95, 5, p 590
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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
Foley AR, Menezes MP, Pandraud A, et al.
Brain, 2014, 137, 1, p. 44-56
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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
Pfeffer G, Barresi R, Wilson IJ, et al.
Journal of neurology, neurosurgery and psychiatry, 2014, 85, 3, p. 331-338
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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Boczonadi V, Müller JS, Pyle A, et al.
Nature communications, 2014, 5
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