Browse by UCL people
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Number of items: 55.
Article
Antelmi, E;
Rocchi, L;
Latorre, A;
Belvisi, D;
Magrinelli, F;
Bhatia, KP;
Tinazzi, M;
(2022)
Restless Legs Syndrome: Known Knowns and Known Unknowns.
Brain Sciences
, 12
(1)
, Article 118. 10.3390/brainsci12010118.
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Baldelli, L;
Schade, S;
Jesús, S;
Schreglmann, SR;
Sambati, L;
Gómez-Garre, P;
Halsband, C;
... Provini, F; + view all
(2021)
Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients.
npj Parkinson's Disease
, 7
, Article 78. 10.1038/s41531-021-00219-1.
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Balint, B;
Damasio, J;
Magrinelli, F;
Guerreiro, R;
Bras, J;
Bhatia, KP;
(2020)
Psychiatric manifestations of ATP13A2 mutations.
Movement Disorders Clinical Practice
, 7
(7)
pp. 838-841.
10.1002/mdc3.13034.
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Belvisi, Daniele;
Pellicciari, Roberta;
Fabbrini, Andrea;
Costanzo, Matteo;
Ressa, Gaia;
Pietracupa, Sara;
De Lucia, Maria;
... Defazio, Giovanni; + view all
(2022)
Relationship between risk and protective factors and clinical features of Parkinson's disease.
Parkinsonism and Related Disorders
, 98
pp. 80-85.
10.1016/j.parkreldis.2022.04.017.
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Calì, E;
Lin, SJ;
Rocca, C;
Sahin, Y;
Al Shamsi, A;
El Chehadeh, S;
Chaabouni, M;
... Saadi, NW; + view all
(2022)
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Genetics in Medicine
10.1016/j.gim.2022.07.013.
(In press).
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Christensen, Maria B;
Levy, Amanda M;
Mohammadi, Nazanin A;
Niceta, Marcello;
Kaiyrzhanov, Rauan;
Dentici, Maria Lisa;
Alam, Chadi Al;
... Tümer, Zeynep; + view all
(2022)
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clinical Genetics
, 102
(2)
pp. 98-109.
10.1111/cge.14165.
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Currò, R;
Salvalaggio, A;
Tozza, S;
Gemelli, C;
Dominik, N;
Galassi Deforie, V;
Magrinelli, F;
... Cortese, A; + view all
(2021)
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
10.1093/brain/awab072.
(In press).
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Di Lazzaro, G;
Magrinelli, F;
Estevez-Fraga, C;
Valente, EM;
Pisani, A;
Bhatia, KP;
(2021)
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Movement Disorders
10.1002/mds.28565.
(In press).
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Di Lazzaro, G;
Magrinelli, F;
Ganos, C;
Bhatia, KP;
(2020)
The Need to Tic.
Movement Disorders Clinical Practice
, 7
(7)
pp. 863-864.
10.1002/mdc3.13023.
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Estevez-Fraga, C;
Magrinelli, F;
Hensman Moss, D;
Mulroy, E;
Di Lazzaro, G;
Latorre, A;
Mackenzie, M;
... Bhatia, KP; + view all
(2021)
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions.
Neurology Genetics
, 7
(2)
e575-e575.
10.1212/nxg.0000000000000575.
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Estevez-Fraga, C;
Magrinelli, F;
Latorre, A;
Cordivari, C;
Houlden, H;
Tinazzi, M;
Hemingway, C;
... Bhatia, KP; + view all
(2020)
A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers.
Parkinsonism and Related Disorders
, 79
pp. 97-99.
10.1016/j.parkreldis.2020.08.016.
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Gavazzi, Francesco;
Patel, Virali;
Charsar, Brittany;
Glanzman, Allan;
Erler, Jacqueline;
Sevagamoorthy, Anjana;
McKenzie, Emma;
... Vanderver, Adeline; + view all
(2023)
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
Journal of Child Neurology
, 38
(8-9)
pp. 498-504.
10.1177/08830738231188159.
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Jacinto, Simeona;
Latorre, Anna;
Magrinelli, Francesca;
Bhatia, Kailash P;
(2023)
Parkinsonism following SARS‐CoV‐2 infection unmasks a genetic twist.
Movement Disorders Clinical Practice
, 10
(7)
pp. 1146-1149.
10.1002/mdc3.13785.
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Koya Kutty, S;
Mulroy, E;
Magrinelli, F;
Di Lazzaro, G;
Latorre, A;
Bhatia, KP;
(2021)
Huntington disease-like phenotype in a patient with ANO3 mutation.
Parkinsonism & Related Disorders
, 90
pp. 120-122.
10.1016/j.parkreldis.2021.02.022.
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Koya Kutty, Shahedah;
Magrinelli, Francesca;
Milner, Anna Vera;
Bhatia, Kailash P;
(2022)
Abnormal DaTscan in GM1-Gangliosidosis Type III Manifesting with Dystonia-Parkinsonism.
Movement Disorders Clinical Practice
, 9
(6)
pp. 825-828.
10.1002/mdc3.13512.
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Latorre, A;
Rocchi, L;
Magrinelli, F;
Mulroy, E;
Berardelli, A;
Rothwell, JC;
Bhatia, KP;
(2020)
Unravelling the enigma of cortical tremor and other forms of cortical myoclonus.
Brain
, 143
(9)
pp. 2653-2663.
10.1093/brain/awaa129.
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Magrinelli, F;
Cali, E;
Braga, VL;
Yis, U;
Tomoum, H;
Shamseldin, H;
Raiman, J;
... Maroofian, R; + view all
(2022)
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Movement Disorders Clinical Practice
10.1002/mdc3.13398.
(In press).
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Magrinelli, F;
Mehta, S;
Di Lazzaro, G;
Latorre, A;
Edwards, MJ;
Balint, B;
Basu, P;
... Bhatia, KP; + view all
(2021)
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Movement Disorders
10.1002/mds.28807.
(In press).
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Magrinelli, F;
Moualek, D;
Tazir, M;
Ali Pacha, L;
Verghese, A;
Bhatia, KP;
Maroofian, R;
(2022)
Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS.
Movement Disorders Clinical Practice
, 9
(2)
pp. 268-271.
10.1002/mdc3.13371.
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Magrinelli, Francesca;
Bhatia, Kailash P;
Beiraghi Toosi, Mehran;
Arab, Fatemeh;
Karimiani, Ehsan Ghayoor;
Sedighzadeh, Sahar;
Ansari, Behnaz;
... Maroofian, Reza; + view all
(2023)
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
Movement Disorders Clinical Practice
, 10
(1)
pp. 101-108.
10.1002/mdc3.13529.
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Magrinelli, Francesca;
Jesuthasan, Aaron;
Bhatia, Kailash P;
Batla, Amit;
(2025)
Basal ganglia calcification: 'Fahr's disease'.
Practical Neurology
10.1136/pn-2024-004258.
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Magrinelli, Francesca;
Lohmann, Katja;
(2022)
PRKRAP1 and other pseudogenes in movement disorders: The troublemakers in genetic analyses are more than genomic fossils.
Movement Disorders Clinical Practice
, 9
(5)
pp. 698-702.
10.1002/mdc3.13499.
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Magrinelli, Francesca;
Mencacci, Niccolò E;
(2022)
Digging into the Unknowns of the Human Genome Sequence: The T2T-CHM13 Reference Assembly Release.
Movement Disorders
, 37
(11)
p. 2192.
10.1002/mds.29235.
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Magrinelli, Francesca;
Rajapaksha, Ishani;
Kobylecki, Christopher;
Latorre, Anna;
Mulroy, Eoin;
Estevez-Fraga, Carlos;
Houlden, Henry;
... Bhatia, Kailash P; + view all
(2022)
Reply to: Juvenile PLA2G6-parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS.
Movement Disorders
10.1002/mds.28955.
(In press).
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Magrinelli, Francesca;
Rocca, Clarissa;
Simone, Roberto;
Zenezini Chiozzi, Riccardo;
Jaunmuktane, Zane;
Mencacci, Niccolò E;
Tinazzi, Michele;
... Bhatia, Kailash P; + view all
(2022)
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Movement Disorders
10.1002/mds.29280.
(In press).
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Magrinelli, F;
Bacchin, R;
Tinazzi, M;
Gambarin, M;
(2019)
Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia.
Movement Disorders Clinical Practice
, 6
(2)
pp. 166-170.
10.1002/mdc3.12712.
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Magrinelli, F;
Balint, B;
Bhatia, KP;
(2021)
Challenges in clinicogenetic correlations: One gene – many phenotypes unravelling the basis of phenotypic heterogeneity in monogenic disorders.
Movement Disorders Clinical Practice
(mdc3.131)
10.1002/mdc3.13165.
(In press).
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Magrinelli, F;
Fabrizi, GM;
Santoro, L;
Manganelli, F;
Cavallaro, T;
Zanette, G;
Tamburin, S;
(2016)
Pharmacological treatment for familial amyloid neuropathy.
Cochrane Database of Systematic Reviews
, 2016
(10)
, Article CD012395. 10.1002/14651858.CD012395.
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Magrinelli, F;
Fabrizi, GM;
Santoro, L;
Manganelli, F;
Zanette, G;
Cavallaro, T;
Tamburin, S;
(2020)
Pharmacological treatment for familial amyloid polyneuropathy.
[Review].
Cochrane Database of Systematic Reviews
(4)
, Article CD012395. 10.1002/14651858.CD012395.pub2.
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Magrinelli, F;
Geroin, C;
Squintani, G;
Gandolfi, M;
Rizzo, G;
Barillari, M;
Vattemi, G;
... Tinazzi, M; + view all
(2020)
Upper camptocormia in Parkinson's disease: Neurophysiological and imaging findings of both central and peripheral pathophysiological mechanisms.
Parkinsonism & Related Disorders
, 71
pp. 28-34.
10.1016/j.parkreldis.2020.01.004.
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Magrinelli, F;
Latorre, A;
Balint, B;
Mackenzie, M;
Mulroy, E;
Stamelou, M;
Tinazzi, M;
(2020)
Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria.
Parkinsonism & Related Disorders
, 77
pp. 121-140.
10.1016/j.parkreldis.2020.04.010.
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Magrinelli, F;
Mulroy, E;
Schneider, SA;
Latorre, A;
Di Lazzaro, G;
Hennig, A;
Grunewald, S;
... Bhatia, KP; + view all
(2020)
Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.
Neurology
, 95
(11)
pp. 500-501.
10.1212/WNL.0000000000010502.
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Magrinelli, F;
Tinazzi, M;
Bhatia, KP;
(2020)
Toward an Early Real‐Time Quaking‐Induced Conversion–Based Diagnostic Biomarker for Lewy Body–Related Synucleinopathies.
Movement Disorders Clinical Practice
, 7
(7)
pp. 780-781.
10.1002/mdc3.13050.
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Magrinelli, F;
Tosi, M;
Tonin, P;
(2017)
Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease.
Neurology
, 89
(3)
E21-E21.
10.1212/WNL.0000000000004119.
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Malaquias, Maria João;
Magrinelli, Francesca;
Bhatia, Kailash P;
(2022)
Breakthrough News in Adenoviral Vector-Mediated AADC Gene Therapy: Lessons from the Success in AADC Deficiency and Possible Future Applications.
Movement Disorders Clinical Practice
, 9
(6)
pp. 737-738.
10.1002/mdc3.13503.
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Malaquias, Maria João;
Magrinelli, Francesca;
Quattrone, Andrea;
Neo, Ray Jen;
Latorre, Anna;
Mulroy, Eoin;
Bhatia, Kailash P;
(2023)
Presynaptic Hemiparkinsonism Following Cerebral Toxoplasmosis: Case Report and Literature Review.
Movement Disorders Clinical Practice
, 10
(2)
pp. 285-299.
10.1002/mdc3.13631.
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Mencacci, NE;
Steel, D;
Magrinelli, F;
Hsu, J;
Sarmiento, IJK;
Schifferli, MT;
Munoz, D;
... Stamelou, M; + view all
(2021)
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Movement Disorder
, 36
(6)
pp. 1472-1473.
10.1002/mds.28634.
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Menon, Poornima Jayadev;
Sambin, Sara;
Criniere-Boizet, Baptiste;
Courtin, Thomas;
Tesson, Christelle;
Casse, Fanny;
Ferrien, Melanie;
... French Parkinson disease Genetics Study Group (PDG); + view all
(2024)
Genotype–phenotype correlation in PRKN-associated Parkinson’s disease.
npj Parkinson's Disease
, 10
, Article 72. 10.1038/s41531-024-00677-3.
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Meoni, G;
Tenori, L;
Schade, S;
Licari, C;
Pirazzini, C;
Bacalini, MG;
Garagnani, P;
... Luchinat, C; + view all
(2022)
Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson's disease patients.
npj Parkinson's Disease
, 8
, Article 14. 10.1038/s41531-021-00274-8.
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Mulroy, E;
Baschieri, F;
Magrinelli, F;
Latorre, A;
Cortelli, P;
Bhatia, KP;
(2021)
Movement Disorders and Liver Disease.
Movement Disorders Clinical Practice
, 8
(6)
pp. 828-842.
10.1002/mdc3.13238.
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Mulroy, E;
Ilinca, A;
Gonzalez‐Robles, C;
Magrinelli, F;
Puschmann, A;
Bhatia, KP;
(2021)
Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes.
Movement Disorders Clinical Practice
, 8
(4)
pp. 627-630.
10.1002/mdc3.13175.
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Mulroy, E;
Magrinelli, F;
Mohd Fauzi, NA;
Kutty, SK;
Latorre, A;
Bhatia, KP;
(2021)
Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8.
Parkinsonism & Related Disorders
, 85
pp. 26-28.
10.1016/j.parkreldis.2021.02.011.
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Mulroy, E;
Latorre, A;
Magrinelli, F;
Bhatia, KP;
(2019)
Ciliary Dysfunction: The Hairy Explanation of Normal Pressure Hydrocephalus?
Movement Disorders Clinical Practice
10.1002/mdc3.12880.
(In press).
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Mulroy, E;
Latorre, A;
Menozzi, E;
Teh, PC;
Magrinelli, F;
Bhatia, KP;
(2020)
Huntington disease like 2 (HDL-2) with parkinsonism and abnormal DAT-SPECT - A novel observation.
Parkinsonism & Related Disorders
, 71
pp. 46-48.
10.1016/j.parkreldis.2020.01.008.
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Neo, Ray Jen;
Mehta, Arpan R;
Weston, Mikail;
Magrinelli, Francesca;
Quattrone, Andrea;
Gandhi, Sonia;
Joyce, Eileen M;
(2024)
Neuropsychiatric Presentation of Anti-DPPX Progressive Encephalomyelitis with Rigidity and Myoclonus.
Movement Disorders Clinical Practice
, 11
(1)
pp. 97-100.
10.1002/mdc3.13928.
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Neo, Shermyn;
Magrinelli, Francesca;
Cordivari, Carla;
Bhatia, Kailash P;
(2024)
Tongue Protrusion and Feeding Dystonia Can Develop in PPP2R2B-Related Spinocerebellar Ataxia.
Movement Disorders Clinical Practice
, 11
(5)
pp. 578-579.
10.1002/mdc3.14014.
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Pirazzini, C;
Azevedo, T;
Baldelli, L;
Bartoletti-Stella, A;
Calandra-Buonaura, G;
Molin, AD;
Dimitri, GM;
... PROPAG-AGEING Consortium; + view all
(2020)
A Geroscience approach for Parkinson's Disease: conceptual framework and design of PROPAG-AGEING project.
Mechanisms of Ageing and Development
10.1016/j.mad.2020.111426.
(In press).
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Quattrone, Andrea;
Latorre, Anna;
Magrinelli, Francesca;
Mulroy, Eoin;
Rajan, Roopa;
Neo, Ray Jen;
Quattrone, Aldo;
... Bhatia, Kailash P; + view all
(2023)
A reflection on motor overflow, mirror phenomena, synkinesia and entrainment.
Movement Disorders Clinical Practice
10.1002/mdc3.13798.
(In press).
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Rajapakshe, Ishani;
Mulroy, Eoin;
Magrinelli, Francesca;
Makawita, Chulika;
Bhatia, Kailash P;
Senanayake, Bimsara;
(2023)
Cranial dystonia as an isolated presentation of DJ-1 disease: Case report and literature review.
Movement Disorders Clinical Practice
, 10
(2)
pp. 313-315.
10.1002/mdc3.13591.
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Shahedah, KK;
Di Lazzaro, G;
Magrinelli, F;
Mulroy, E;
Latorre, A;
Bhatia, KP;
(2021)
Late‐Onset Chorea in JAK2‐Associated Essential Thrombocythemia.
Movement Disorders Clinical Practice
, 8
(1)
pp. 145-148.
10.1002/mdc3.13105.
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Vegezzi, Elisa;
Ishiura, Hiroyuki;
Bragg, Cristopher;
Pellerin, David;
Magrinelli, Francesca;
Currò, Riccardo;
Facchini, Stefano;
... Cortese, Andrea; + view all
(2024)
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
The Lancet Neurology
, 23
(7)
pp. 725-739.
10.1016/S1474-4422(24)00167-4.
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Wijngaard, R;
Demidov, G;
O’Gorman, L;
Corominas-Galbany, J;
Yaldiz, B;
Steyaert, W;
de Boer, E;
... Gilissen, C; + view all
(2023)
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (European Journal of Human Genetics, (2023), 10.1038/s41431-023-01478-7).
European Journal of Human Genetics
10.1038/s41431-023-01492-9.
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Wijngaard, R;
Demidov, G;
O’Gorman, L;
Corominas-Galbany, J;
Yaldiz, B;
Steyaert, W;
de Boer, E;
... Gilissen, C; + view all
(2023)
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.
European Journal of Human Genetics
10.1038/s41431-023-01478-7.
(In press).
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Zago, E;
Dal Molin, A;
Dimitri, GM;
Xumerle, L;
Pirazzini, C;
Bacalini, MG;
Maturo, MG;
... Williams, D; + view all
(2022)
Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients.
Scientific Reports
, 12
, Article 1330. 10.1038/s41598-022-05227-6.
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Poster
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Estevez-Fraga, C;
Magrinelli, F;
Latorre, A;
Houlden, H;
Tabrizi, SJ;
Bhatia, K;
(2020)
Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene.
Presented at: MDS Virtual Congress 2020, Online conference.
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