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21.
Neuray, C.* et al.: Early-onset phenotype of bi-allelic GRN mutations. Brain 144:e22 (2021)
22.
Riedhammer, K.M.* et al.: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain 144, 411-419 (2021)
23.
Zech, M. et al.: MATR3 haploinsufficiency and early-onset neurodegeneration. Brain 144:e72 (2021)
24.
Mak, C.C.Y.* et al.: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020)
25.
Zhou, J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses (vol 142, pg 50, 2019). Brain 143:e15 (2020)
26.
Zhou, J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 143:e8 (2020)
27.
Esposito, A.* et al.: Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain 142, 3876-3891 (2019)
28.
Forouhideh, Y.* et al.: A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain 142, e4 (2019)
29.
Van Bergen, N.J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 142, 50-58 (2019)
30.
Vaz, F.M.* et al.: Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 142, 3382-3397 (2019)
31.
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
32.
Distelmaier, F.* ; Haack, T.B. ; Wortmann, S.B. ; Mayr, J.A.* & Prokisch, H.: Treatable mitochondrial diseases: Cofactor metabolism and beyond. Brain 140:e11 (2017)
33.
Robak, L.A.* et al.: Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain 140, 3191-3203 (2017)
34.
Brenner, D.* et al.: NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139:e28 (2016)
35.
Holzerova, E. et al.: Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346-354 (2016)
36.
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)
37.
Marroquin, N.* et al.: Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: No evidence for pathogenicity of the p.P34S variant. Brain 139, E8-U10 (2016)
38.
Müller, S.H.* et al.: Genome-wide association study in essential tremor identifies three new loci. Brain 139, 3163-3169 (2016)
39.
Synofzik, M.* et al.: SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large scale multi-centre study. Brain 139, 1378-1393 (2016)
40.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
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