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Published in Brain (London, England : 1878) (01.06.2012)
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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource
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TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
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Published in American journal of human genetics (06.08.2015)
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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
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Published in Genetics in medicine (01.10.2018)
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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
NICOLE, Sophie, CHAOUCH, Amina, COX, Daniel, MÜLLER, Juliane S, EVANGELISTA, Teresinha, STALBERG, Erik, LOOS, Christine, BAROIS, Annie, BROCHIER, Guy, STERNBERG, Damien, FOURNIER, Emmanuel, HANTAÏ, Daniel, TORBERGSEN, Torberg, ABICHT, Angela, DUSL, Marina, LAVAL, Steven H, GRIFFIN, Helen, EYMARD, Bruno, LOCHMÜLLER, Hanns, BAUCHE, Stéphanie, DE BRUYCKERE, Elodie, FONTENILLE, Marie-Joséphine, HORN, Morten A, VAN GHELUE, Marijke, LØSETH, Sissel, ISSOP, Yasmin
Published in Brain (London, England : 1878) (01.09.2014)
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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
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Published in American journal of human genetics (04.04.2024)
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Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation
Talim, Beril, Pyle, Angela, Griffin, Helen, Topaloglu, Haluk, Tokatli, Aysegul, Keogh, Michael J, Santibanez-Koref, Mauro, Chinnery, Patrick F, Horvath, Rita
Published in Brain (London, England : 1878) (01.02.2013)
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Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
Keogh, Michael J, Pyle, Angela, Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Eglon, Gail, Miller, James, Horvath, Rita, Chinnery, Patrick F
Published in Neurology (28.04.2015)
Published in Neurology (28.04.2015)
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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
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Published in Journal of neurology, neurosurgery and psychiatry (01.03.2014)
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Dual Proteolytic Pathways Govern Glycolysis and Immune Competence
Lu, Wei, Zhang, Yu, McDonald, David O., Jing, Huie, Carroll, Bernadette, Robertson, Nic, Zhang, Qian, Griffin, Helen, Sanderson, Sharon, Lakey, Jeremy H., Morgan, Neil V., Reynard, Louise N., Zheng, Lixin, Murdock, Heardley M., Turvey, Stuart E., Hackett, Scott J., Prestidge, Tim, Hall, Julie M., Cant, Andrew J., Matthews, Helen F., Koref, Mauro F. Santibanez, Simon, Anna Katharina, Korolchuk, Viktor I., Lenardo, Michael J., Hambleton, Sophie, Su, Helen C.
Published in Cell (18.12.2014)
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Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28
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Published in JAMA neurology (01.01.2015)
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Reply: Evaluation of exome sequencing variation in undiagnosed ataxias
Pyle, Angela, Griffin, Helen, Keogh, Michael J, Horvath, Rita, Chinnery, Patrick F
Published in Brain (London, England : 1878) (01.10.2015)
Published in Brain (London, England : 1878) (01.10.2015)
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Published in Neurology. Genetics (01.04.2016)
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Congenital nephrotic syndrome in IL7Rα-SCID: A rare feature of maternofetal graft-versus-host disease
Tsilifis, Christo, Slatter, Mary, Cordeiro, Ana Isabel, Hambleton, Sophie, Engelhardt, Karin R, Griffin, Helen, Gennery, Andrew R, Neves, João Farela
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.11.2021)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.11.2021)
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Phenotypic variability of TRPV4 related neuropathies
Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F, Lochmüller, Hanns, Horvath, Rita
Published in Neuromuscular disorders : NMD (01.06.2015)
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Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
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Published in Neurology (22.05.2018)
Published in Neurology (22.05.2018)
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