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T. Evangelista · SciRah

Researcher profile · Semantic Scholar

T. Evangelista

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T. Evangelista — researcher profile on SciRah

h-index: 36
Works: 176
Citations: 4,416

Most-cited papers

Genetic heterogeneity of motor neuropathies
B. Bánsági, H. Griffin, R. Whittaker, T. Antoniadi +15 more
2017Neurology100 citations Open access
Semantic Scholar
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B. Zurek, K. Ellwanger, L. Vissers, R. Schüle +25 more
2021European Journal of Human Genetics88 citations Open access
Semantic Scholar
Molecular characterization of congenital myasthenic syndromes in Spain.
D. Benito, A. Töpf, J. Vílchez, L. González-Quereda +27 more
2017Neuromuscular Disorders77 citations Open access
Semantic Scholar
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness
Z. Lukács, Paulina Nieves Cobos, S. Wenninger, T. Willis +14 more
2016Neurology69 citations Open access
Semantic Scholar
Reduced serum myostatin concentrations associated with genetic muscle disease progression
P. Burch, O. Pogoryelova, J. Palandra, Richard A Goldstein +9 more
2017Journal of Neurology61 citations Open access
Semantic Scholar
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
E. Harris, A. Topf, R. Barresi, J. Hudson +13 more
2017Orphanet Journal of Rare Diseases59 citations Open access
Semantic Scholar
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
G. Morís, L. Wood, R. Fernández-Torrón, José Andrés González Coraspe +12 more
2017Muscle and Nerve56 citations Open access
Semantic Scholar
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome
E. O'Connor, A. Töpf, J. Müller, D. Cox +8 more
2016Brain : a journal of neurology54 citations Open access
Semantic Scholar
1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018.
B. Udd, W. Stenzel, A. Oldfors, M. Olivé +6 more
2019Neuromuscular Disorders48 citations Open access
Semantic Scholar
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
E. Harris, Umar Burki, C. Marini-Bettolo, M. Neri +14 more
2017Neuromuscular Disorders48 citations
Semantic Scholar
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes
G. McMacken, A. Abicht, T. Evangelista, S. Spendiff +1 more
2017Neuropediatrics46 citations Open access
Semantic Scholar
215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands
T. Evangelista, C. Weihl, V. Kimonis, Hanns Lochmüller
2016Neuromuscular Disorders45 citations Open access
Semantic Scholar
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients
G. McMacken, R. Whittaker, T. Evangelista, A. Abicht +2 more
2017Journal of Neurology38 citations Open access
Semantic Scholar
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks
T. Evangelista, Victoria Hedley, A. Atalaia, Matt Johnson +3 more
2016Orphanet Journal of Rare Diseases38 citations Open access
Semantic Scholar
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
D. Benito, M. Bestue, J. Vilchez, T. Evangelista +12 more
2016Neuromuscular Disorders38 citations
Semantic Scholar
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong Joo Kim, P. Mohassel, S. Donkervoort, Lin Guo +54 more
2022Nature Communications36 citations Open access
Semantic Scholar
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
T. Evangelista, L. Wood, R. Fernández-Torrón, Maggie Williams +10 more
2016Journal of Neurology33 citations Open access
Semantic Scholar
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
A. Atalaia, R. Thompson, A. Corvó, L. Carmody +28 more
2020Orphanet Journal of Rare Diseases32 citations Open access
Semantic Scholar
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
D. Owen, A. Töpf, V. Preethish-Kumar, P. Lorenzoni +17 more
2018American Journal of Medical Genetics. Part A32 citations Open access
Semantic Scholar
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Manisha Korb, A. Peck, L. Alfano, K. Berger +50 more
2022Orphanet Journal of Rare Diseases31 citations Open access
Semantic Scholar
FSHD type 2 and Bosma arhinia microphthalmia syndrome
K. Mul, R. Lemmers, M. Kriek, P. van der Vliet +19 more
2018Neurology31 citations Open access
Semantic Scholar
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors
D. Benito, A. Nascimento, A. Abicht, C. Ortez +8 more
2016Journal of Neurology31 citations
Semantic Scholar
Phenotypic variability of TRPV4 related neuropathies
T. Evangelista, B. Bánsági, A. Pyle, H. Griffin +8 more
2015Neuromuscular Disorders31 citations Open access
Semantic Scholar
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
R. Lemmers, N. van der Stoep, P. van der Vliet, S. Moore +16 more
2019Journal of Medical Genetics29 citations Open access
Semantic Scholar
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
C. Labasse, G. Brochier, A. Taratuto, B. Cadot +26 more
2022Acta Neuropathologica Communications28 citations Open access
Semantic Scholar
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
A. Berardo, X. Lornage, M. Johari, T. Evangelista +11 more
2019Journal of Neurology26 citations Open access
Semantic Scholar
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms.
C. Banerji, P. Cammish, T. Evangelista, P. Zammit +2 more
2020Neuromuscular Disorders25 citations
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
A. Atalaia, D. Wandrei, Nawel Lalout, R. Thompson +34 more
2024Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
J. Dominov, Özgün Uyan, D. McKenna-Yasek, B. Nallamilli +10 more
2019Annals of Clinical and Translational Neurology23 citations Open access
Semantic Scholar
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis
Delphine Sapaly, Flore Cheguillaume, Laure Weill, Zoé Clerc +32 more
2024Brain : a journal of neurology22 citations Open access
Semantic Scholar
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy
G. Ricci, P. Cammish, G. Siciliano, R. Tupler +2 more
2019Muscle and Nerve20 citations Open access
Semantic Scholar
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group
M. Mancuso, Maria T. Papadopoulou, Y. Ng, A. Ardissone +21 more
2024European Journal of Neurology19 citations Open access
Semantic Scholar
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
G. Fernández-Eulate, G. Querin, U. Moore, A. Béhin +23 more
2021European Journal of Neurology17 citations Open access
Semantic Scholar
Screening for Pompe disease in a Portuguese high risk population.
V. Almeida, I. Conceição, I. Fineza, T. Coelho +16 more
2017Neuromuscular Disorders17 citations Open access
Semantic Scholar
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
A. Töpf, A. Pyle, H. Griffin, L. Matalonga +56 more
2021European Journal of Human Genetics15 citations Open access
Semantic Scholar
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)
S. Attarian, S. Beloribi-Djefaflia, Rafaëlle Bernard, K. Nguyen +13 more
2024Journal of Neurology14 citations Open access
Semantic Scholar
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
F. Fortunato, Francesca Bianchi, G. Ricci, F. Torri +47 more
2023Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
T. Evangelista, X. Lornage, P. Carlier, G. Bassez +9 more
2020Journal of Neuropathology and Experimental Neurology14 citations
Semantic Scholar
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC
H. Kölbel, A. Roos, P. F. Ven, T. Evangelista +11 more
2020Human Mutation14 citations Open access
Semantic Scholar
Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients
M. Signorelli, A. G. Mason, K. Mul, T. Evangelista +7 more
2020Scientific Reports14 citations Open access
Semantic Scholar
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
R. Lemmers, Russell J Butterfield, P. van der Vliet, J. De Bleecker +19 more
2023Brain : a journal of neurology13 citations Open access
Semantic Scholar
Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions
Wael Khazen, S. Corriol-Rohou, T. Evangelista, Arnaud Valent +3 more
2025Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025
H. Graessner, S. Ripp, Alberto M. Pereira, Franz Schaefer +23 more
2026Orphanet Journal of Rare Diseases10 citations Open access
Semantic Scholar
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
M. Bahout, Gianmarco Severa, Emna Kamoun, F. Bouhour +28 more
2024Journal of Neurology Neurosurgery & Psychiatry10 citations Open access
Semantic Scholar
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
Hadil Alrohaif, A. Töpf, T. Evangelista, Monkol Lek +2 more
2018Neurology: Genetics10 citations Open access
Semantic Scholar
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
B. Roy, A. Peck, T. Evangelista, G. Pfeffer +16 more
2023Annals of Clinical and Translational Neurology9 citations Open access
Semantic Scholar
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study
B. Peterlin, F. Gualandi, A. Maver, S. Servidei +5 more
2020PLoS ONE9 citations Open access
Semantic Scholar
Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy.
Miguel Oliveira Santos, T. Evangelista, I. Conceição
2018Neuromuscular Disorders9 citations
Semantic Scholar
Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis
U. Badrising, R. Tsonaka, M. Hiller, E. Niks +5 more
2017Journal of Neuromuscular Diseases9 citations
Semantic Scholar

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