Browse by UCL people
Group by: Type | Date
Number of items: 506.
2024
Cakar, Arman;
Maroofian, Reza;
Parman, Yesim;
Reilly, Mary M;
Houlden, Henry;
(2024)
Novel and nano-rare genetic causes of paediatric-onset motor neuronopathies.
Brain Communications
, 6
(1)
, Article fcae003. 10.1093/braincomms/fcae003.
(In press).
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Chelban, Viorica;
Aksnes, Henriette;
Maroofian, Reza;
LaMonica, Lauren C;
Seabra, Luis;
Siggervåg, Anette;
Devic, Perrine;
... Houlden, Henry; + view all
(2024)
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nature Communications
, 15
, Article 2269. 10.1038/s41467-024-46354-0.
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Chen, Z;
Gustavsson, EK;
Macpherson, H;
Anderson, C;
Clarkson, C;
Rocca, C;
Self, E;
... Ptáček, LJ; + view all
(2024)
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Movement Disorders
10.1002/mds.29704.
(In press).
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Efthymiou, Stephanie;
Scala, Marcello;
Nagaraj, Vini;
Ochenkowska, Katarzyna;
Komdeur, Fenne L;
Liang, Robin A;
Abdel-Hamid, Mohamed S;
... McClenaghan, Conor; + view all
(2024)
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
, Article awae010. 10.1093/brain/awae010.
(In press).
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Kartanou, C;
Mitrousias, A;
Pellerin, D;
Kontogeorgiou, Z;
Iruzubieta, P;
Dicaire, MJ;
Danzi, MC;
... Koutsis, G; + view all
(2024)
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Clinical Genetics
10.1111/cge.14482.
(In press).
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Kekenadze, Mariam;
Rocca, Clarissa;
Turchetti, Valentina;
Nagy, Sara;
Kvirkvelia, Nana;
Vashadze, Shorena;
Kvaratskhelia, Eka;
... Houlden, Henry; + view all
(2024)
Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).
F1000Research
, 12
, Article 1113. 10.12688/f1000research.138436.2.
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Laugwitz, Lucia;
Cheng, Fubo;
Collins, Stephan C;
Hustinx, Alexander;
Navarro, Nicolas;
Welsch, Simon;
Cox, Helen;
... Haack, Tobias B; + view all
(2024)
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
10.1093/brain/awae058.
(In press).
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Maroofian, R;
Zamani, M;
Kaiyrzhanov, R;
Liebmann, L;
Karimiani, EG;
Vona, B;
Huebner, AK;
... Hübner, CA; + view all
(2024)
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genetics in Medicine
, 26
(3)
, Article 101034. 10.1016/j.gim.2023.101034.
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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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Nóbrega, Paulo R;
R B de Paiva, Anderson;
Souza, Katiane S;
de Souza, Jorge Luiz B;
G S B Lima, Pedro Lucas;
da Silva, Delson José;
Pitombeira, Milena Sales;
... Braga-Neto, Pedro; + view all
(2024)
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Brain Communications
, 6
(1)
, Article fcad273. 10.1093/braincomms/fcad273.
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Novis, Luiz Eduardo;
Alavi, Shahryar;
Pellerin, David;
Della Coleta, Marcus Vinicius;
Raskin, Salmo;
Spitz, Mariana;
Cortese, Andrea;
... Teive, Helio Afonso; + view all
(2024)
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Parkinsonism and Related Disorders
, 119
, Article 105961. 10.1016/j.parkreldis.2023.105961.
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Ojo, Oluwadamilola Omolara;
Bandres-Ciga, Sara;
Makarious, Mary B;
Crea, Peter Wild;
Hernandez, Dena G;
Houlden, Henry;
Rizig, Mie;
... Nigeria Parkinson's Disease Research Network and the Global Park; + view all
(2024)
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
Movement Disorders
10.1002/mds.29753.
(In press).
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Pellerin, D;
Heindl, F;
Traschütz, A;
Rujescu, D;
Hartmann, AM;
Brais, B;
Houlden, H;
... Synofzik, M; + view all
(2024)
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
Journal of Neurology
10.1007/s00415-024-12229-z.
(In press).
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Quinlivan, R;
Murphy, E;
Pula, S;
Pain, A;
Brain, H;
Scopes, G;
Gjika, F;
... Houlden, H; + view all
(2024)
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Neuromuscular Disorders
, 34
pp. 49-53.
10.1016/j.nmd.2023.11.012.
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Rosh, Idan;
Tripathi, Utkarsh;
Hussein, Yara;
Rike, Wote Amelo;
Djamus, Jose;
Shklyar, Boris;
Manole, Andreea;
... Stern, Shani; + view all
(2024)
Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson's disease patients.
npj Parkinsons Disease
, 10
(1)
, Article 38. 10.1038/s41531-024-00653-x.
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2023
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Accogli, Andrea;
Zaki, Maha S;
Al-Owain, Mohammed;
Otaif, Mansour Y;
Jackson, Adam;
Argilli, Emanuela;
Chandler, Kate E;
... Maroofian, Reza; + view all
(2023)
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Communications
, 5
(5)
, Article fcad222. 10.1093/braincomms/fcad222.
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Almousa, Hashem;
Lewis, Sara A;
Bakhtiari, Somayeh;
Nordlie, Sandra Hinz;
Pagnozzi, Alex;
Magee, Helen;
Efthymiou, Stephanie;
... Kruer, Michael C; + view all
(2023)
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
, Article awad301. 10.1093/brain/awad301.
(In press).
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Amore, Greta;
Calì, Elisa;
Spanò, Maria;
Ceravolo, Giorgia;
Mangano, Giuseppe Donato;
Scorrano, Giovanna;
Efthymiou, Stephanie;
... Di Rosa, Gabriella; + view all
(2023)
ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview.
Brain & Development
10.1016/j.braindev.2023.07.004.
(In press).
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Ashton, Catherine;
Indelicato, Elisabetta;
Pellerin, David;
Clément, Guillemette;
Danzi, Matt C;
Dicaire, Marie-Josée;
Bonnet, Céline;
... Brais, Bernard; + view all
(2023)
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Brain Communications
, 5
(5)
, Article fcad239. 10.1093/braincomms/fcad239.
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Bandres-Ciga, Sara;
Faghri, Faraz;
Majounie, Elisa;
Koretsky, Mathew J;
Kim, Jeffrey;
Levine, Kristin S;
Leonard, Hampton;
... Vitale, Dan; + view all
(2023)
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
medRxiv.org: Cold Spring Harbor, NY, USA.
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Bonnet, C;
Pellerin, D;
Roth, V;
Clément, G;
Wandzel, M;
Lambert, L;
Frismand, S;
... Renaud, M; + view all
(2023)
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Scientific Reports
, 13
(1)
, Article 9737. 10.1038/s41598-023-36654-8.
(In press).
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Ceravolo, G;
Zhelcheska, K;
Squadrito, V;
Pellerin, D;
Gitto, E;
Hartley, L;
Houlden, H;
(2023)
Update on leukodystrophies and developing trials.
Journal of Neurology
10.1007/s00415-023-11996-5.
(In press).
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Chen, Zhongbo;
Tucci, Arianna;
Cipriani, Valentina;
Gustavsson, Emil K;
Ibañez, Kristina;
Reynolds, Regina H;
Zhang, David;
... Ryten, Mina; + view all
(2023)
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
, 146
, Article awad009. 10.1093/brain/awad009.
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Cortese, Andrea;
Currò, Riccardo;
Ronco, Riccardo;
Blake, Julian;
Rossor, Alex M;
Bugiardini, Enrico;
Laurà, Matilde;
... Reilly, Mary M; + view all
(2023)
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.
European Journal of Neurology
10.1111/ene.16063.
(In press).
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D’Onofrio, G;
Accogli, A;
Severino, M;
Caliskan, H;
Kokotović, T;
Blazekovic, A;
Jercic, KG;
... Nagy, V; + view all
(2023)
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Human Genetics
10.1007/s00439-023-02552-2.
(In press).
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De Pace, Raffaella;
Maroofian, Reza;
Paimboeuf, Adeline;
Zamani, Mina;
Zaki, Maha S;
Sadeghian, Saeid;
Azizimalamiri, Reza;
... Bonifacino, Juan S; + view all
(2023)
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
awad427.
10.1093/brain/awad427.
(In press).
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Deng, R;
Medico-Salsench, E;
Nikoncuk, A;
Ramakrishnan, R;
Lanko, K;
Kühn, NA;
van der Linde, HC;
... Barakat, TS; + view all
(2023)
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathologica
10.1007/s00401-023-02579-9.
(In press).
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Dominik, Natalia;
Magri, Stefania;
Currò, Riccardo;
Abati, Elena;
Facchini, Stefano;
Corbetta, Marinella;
MacPherson, Hannah;
... Cortese, Andrea; + view all
(2023)
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
, Article awad240. 10.1093/brain/awad240.
(In press).
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Duan, R;
Marafi, D;
Xia, ZJ;
Ng, BG;
Maroofian, R;
Sumya, FT;
Saad, AK;
... Lupski, JR; + view all
(2023)
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Journal of Inherited Metabolic Disease
10.1002/jimd.12679.
(In press).
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Engal, E;
Oja, KT;
Maroofian, R;
Geminder, O;
Le, TL;
Marzin, P;
Guimier, A;
... Mor-Shaked, H; + view all
(2023)
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
American Journal of Human Genetics
, 110
(12)
pp. 2112-2119.
10.1016/j.ajhg.2023.10.013.
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Fasham, James;
Huebner, Antje K;
Liebmann, Lutz;
Khalaf-Nazzal, Reham;
Maroofian, Reza;
Kryeziu, Nderim;
Wortmann, Saskia B;
... Hübner, Christian A; + view all
(2023)
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
, Article awad235. 10.1093/brain/awad235.
(In press).
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Goh, Yee Yen;
Saunders, Emma;
Pavey, Samantha;
Rushton, Emma;
Quinn, Niall;
Houlden, Henry;
Chelban, Viorica;
(2023)
Multiple system atrophy.
Practical Neurology
, 23
(3)
pp. 208-221.
10.1136/practneurol-2020-002797.
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Gracia-Diaz, Carolina;
Zhou, Yijing;
Yang, Qian;
Maroofian, Reza;
Espana-Bonilla, Paula;
Lee, Chul-Hwan;
Zhang, Shuo;
... Akizu, Naiara; + view all
(2023)
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
, 14
, Article 4109. 10.1038/s41467-023-39645-5.
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Husain, Ralf A;
Jiao, Xinfu;
Hennings, J Christopher;
Giesecke, Jan;
Palsule, Geeta;
Beck-Wödl, Stefanie;
Osmanović, Dina;
... Rubio, Ignacio; + view all
(2023)
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
10.1093/brain/awad434.
(In press).
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Iruzubieta, P;
Pellerin, D;
Bergareche, A;
Albajar, I;
Mondragón, E;
Vinagre, A;
Fernández-Torrón, R;
... Ruiz-Martínez, J; + view all
(2023)
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
European Journal of Neurology
10.1111/ene.16039.
(In press).
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Kaiyrzhanov, Rauan;
Rad, Aboulfazl;
Lin, Sheng-Jia;
Bertoli-Avella, Aida;
Kallemeijn, Wouter W;
Godwin, Annie;
Zaki, Maha S;
... Maroofian, Reza; + view all
(2023)
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
10.1093/brain/awad380.
(In press).
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Klockgether, T;
Synofzik, M;
Alhusaini, S;
Anheim, M;
Antonijevic, I;
Ashizawa, T;
Bataller, L;
... Ziegler, W; + view all
(2023)
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.
The Cerebellum
10.1007/s12311-023-01547-z.
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Lam, Tanya;
Rocca, Clarissa;
Ibanez, Kristina;
Dalmia, Anupriya;
Tallman, Samuel;
Hadjivassiliou, Marios;
Hensiek, Anke;
... Tucci, Arianna; + view all
(2023)
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Brain Communications
, 5
(5)
, Article fcad244. 10.1093/braincomms/fcad244.
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Langhammer, F;
Maroofian, R;
Badar, R;
Gregor, A;
Rochman, M;
Ratliff, JB;
Koopmans, M;
... Zweier, C; + view all
(2023)
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genetics in Medicine
, 25
(8)
, Article 100885. 10.1016/j.gim.2023.100885.
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Lantos, PL;
Quinn, NP;
(2023)
Multiple system atrophy.
Practical Neurology
, 23
(3)
pp. 208-221.
10.1136/pn-2020-002797.
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Liu, Z;
Xin, B;
Smith, IN;
Sency, V;
Szekely, J;
Alkelai, A;
Shuldiner, A;
... Wang, H; + view all
(2023)
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Human Molecular Genetics
, 32
(20)
pp. 2981-2995.
10.1093/hmg/ddad124.
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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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Maroofian, Reza;
Kaiyrzhanov, Rauan;
Cali, Elisa;
Zamani, Mina;
Zaki, Maha S;
Ferla, Matteo;
Tortora, Domenico;
... Severino, Mariasavina; + view all
(2023)
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
, 146
(12)
pp. 5031-5043.
10.1093/brain/awad257.
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Mikaeili, Hajar;
Habib, Abdella M;
Yeung, Charlix Wai-Lok;
Santana-Varela, Sonia;
Luiz, Ana P;
Panteleeva, Kseniia;
Zuberi, Sana;
... Cox, James J; + view all
(2023)
Molecular basis of FAAH-OUT-associated
human pain insensitivity.
Brain
, Article awad098. 10.1093/brain/awad098.
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Novis, Luiz Eduardo;
Frezatti, Rodrigo S;
Pellerin, David;
Tomaselli, Pedro J;
Alavi, Shahryar;
Della Coleta, Marcus Vinícius;
Spitz, Mariana;
... Teive, Helio A; + view all
(2023)
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Neurology Genetics
, 9
(5)
, Article e200094. 10.1212/NXG.0000000000200094.
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Okunoye, Olaitan;
Ojo, Oluwadamilola O;
Abiodun, Oladunni;
Abubakar, Sani;
Achoru, Charles;
Adeniji, Olaleye;
Agabi, Osigwe;
... Okubadejo, Njideka; + view all
(2023)
MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset.
Parkinsonism & Related Disorders
, 113
, Article 105517. 10.1016/j.parkreldis.2023.105517.
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Ostrozovicova, M;
Dusek, P;
Grofik, M;
Han, V;
Holly, P;
Jech, R;
Klivenyi, P;
... Skorvanek, M; + view all
(2023)
Central European Group on Genetics of Movement Disorders.
European Journal of Neurology
10.1111/ene.16165.
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Paiva, Anderson Rodrigues Brandão de;
Pessoa, André Luiz Santos;
Nóbrega, Paulo Ribeiro;
Moreno, Cristiane Araujo Martins;
Lynch, David S;
Taniguti, Lucas Mitsuo;
Kitajima, João Paulo;
... Kok, Fernando; + view all
(2023)
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2022-330135.
(In press).
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Pellerin, David;
Wilke, Carlo;
Traschütz, Andreas;
Nagy, Sara;
Currò, Riccardo;
Dicaire, Marie-Josée;
Garcia-Moreno, Hector;
... Synofzik, Matthis; + view all
(2023)
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
Journal of Neurology, Neurosurgery and Psychiatry
10.1136/jnnp-2023-331490.
(In press).
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Quartesan, Ilaria;
Vegezzi, Elisa;
Currò, Riccardo;
Heslegrave, Amanda;
Pisciotta, Chiara;
Iruzubieta, Pablo;
Salvalaggio, Alessandro;
... Cortese, Andrea; + view all
(2023)
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Movement Disorders
10.1002/mds.29680.
(In press).
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Rahmioglu, Nilufer;
Mortlock, Sally;
Ghiasi, Marzieh;
Møller, Peter L;
Stefansdottir, Lilja;
Galarneau, Geneviève;
Turman, Constance;
... Zondervan, Krina T; + view all
(2023)
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
Nature Genetics
, 55
(3)
pp. 423-436.
10.1038/s41588-023-01323-z.
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Ronco, Riccardo;
Perini, Cecilia;
Currò, Riccardo;
Dominik, Natalia;
Facchini, Stefano;
Gennari, Alice;
Simone, Roberto;
... Cortese, Andrea; + view all
(2023)
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Neurology
, 100
(5)
e543-e554.
10.1212/WNL.0000000000201486.
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Saffari, Afshin;
Kellner, Melanie;
Jordan, Catherine;
Rosengarten, Helena;
Mo, Alisa;
Zhang, Bo;
Strelko, Oleksandr;
... Ebrahimi-Fakhari, Darius; + view all
(2023)
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
, 146
(5)
pp. 2003-2015.
10.1093/brain/awac391.
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Saffari, Afshin;
Lau, Tracy;
Tajsharghi, Homa;
Karimiani, Ehsan Ghayoor;
Kariminejad, Ariana;
Efthymiou, Stephanie;
Zifarelli, Giovanni;
... Maroofian, Reza; + view all
(2023)
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
, 146
, Article awad039. 10.1093/brain/awad039.
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Sahi, Nitin;
Haider, Lukas;
Chung, Karen;
Prados Carrasco, Ferran;
Kanber, Baris;
Samson, Rebecca;
Thompson, Alan J;
... Chard, Declan; + view all
(2023)
Genetic influences on disease course and severity, 30 years after a clinically isolated syndrome.
Brain Communications
, 5
(5)
, Article fcad255. 10.1093/braincomms/fcad255.
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Saida, K;
Maroofian, R;
Sengoku, T;
Mitani, T;
Pagnamenta, AT;
Marafi, D;
Zaki, MS;
... Matsumoto, N; + view all
(2023)
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genetics in Medicine
, 25
(1)
pp. 90-102.
10.1016/j.gim.2022.09.010.
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Salpietro, V;
Maroofian, R;
Zaki, MS;
Wangen, J;
Ciolfi, A;
Barresi, S;
Efthymiou, S;
... Scorrano, G; + view all
(2023)
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
American Journal of Human Genetics
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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
European Journal of Human Genetics
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Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials.
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
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A novel variant of GALC in a familial case of krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation.
Genes and Diseases
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Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
International Journal of Developmental Neuroscience
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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Nature Communications
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Journal of Neurology, Neurosurgery & Psychiatry
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GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
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Iatrogenic cerebral amyloid angiopathy: an emerging clinical phenomenon.
Journal of Neurology, Neurosurgery and Psychiatry
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Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Orphanet Journal of Rare Diseases
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HLA-DRB1*1501 influences long-term disability progression and tissue damage on MRI in relapse-onset multiple sclerosis.
Multiple Sclerosis Journal
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Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Annals of Neurology
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Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.
Frontiers in Neurology
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Recapitulation of endogenous 4R tau expression and formation of insoluble tau in directly reprogrammed human neurons.
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Neurofilament light levels predict clinical progression and death in multiple system atrophy.
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DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
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Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
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Practical Neurology
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Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.
Annals of Clinical and Translational Neurology
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Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol.
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A Genome-Wide Association Study of Outcome After Aneurysmal Subarachnoid Haemorrhage: Discovery Analysis.
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APOE and Cerebral Small Vessel Disease Markers in Patients With Intracerebral Hemorrhage.
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Motor neuron pathology in CANVAS due to RFC1 expansions.
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Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Annals of Clinical and Translational Neurology
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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
American Journal of Human Genetics
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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
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Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Parkinson's Disease
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Movement Disorders Clinical Practice
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Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS.
Movement Disorders Clinical Practice
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Reply to: Juvenile PLA2G6-parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS.
Movement Disorders
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Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Movement Disorders
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How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey.
European Journal of Neurology
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
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Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson's disease patients.
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Communications Biology
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genetics in Medicine
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A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clinical Genetics
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APOE E4 is associated with impaired self-declared cognition but not disease risk or age of onset in Nigerians with Parkinson's disease.
npj Parkinson's Disease
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
American Journal of Human Genetics
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AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
European Journal of Medical Genetics
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
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