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1.
Invernizzi, F.* et al.: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3. Brain, DOI: 10.1093/brain/awab238 (2021)
2.
Kaiyrzhanov, R.* et al.: Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain 144, e30 (2021)
3.
Macrini, C.* et al.: Features of MOG required for recognition by patients with MOG antibody-associated disorders. Brain, DOI: 10.1093/brain/awab105 (2021)
4.
Monfrini, E.* et al.: HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia. Brain, DOI: 10.1093/brain/awab161 (2021)
5.
Neuray, C.* et al.: Early-onset phenotype of bi-allelic GRN mutations. Brain 144:e22 (2021)
6.
Riedhammer, K.M.* et al.: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain 144, 411-419 (2021)
7.
Zech, M. et al.: MATR3 haploinsufficiency and early-onset neurodegeneration. Brain, DOI: 10.1093/brain/awab240 (2021)
8.
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)
9.
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)
10.
Zhou, J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 143:e8 (2020)
11.
Esposito, A.* et al.: Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain 142, 3876-3891 (2019)
12.
Forouhideh, Y.* et al.: A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain 142, e4 (2019)
13.
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)
14.
Vaz, F.M.* et al.: Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 142, 3382-3397 (2019)
15.
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)
16.
Distelmaier, F.* ; Haack, T.B. ; Wortmann, S.B. ; Mayr, J.A.* & Prokisch, H.: Treatable mitochondrial diseases: Cofactor metabolism and beyond. Brain 140:e11 (2017)
17.
Robak, L.A.* et al.: Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain 140, 3191-3203 (2017)
18.
Brenner, D.* et al.: NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139:e28 (2016)
19.
Holzerova, E. et al.: Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346-354 (2016)
20.
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)