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Page 1
PIK3R1 mutations in SHORT syndrome.
Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. Schroeder C, et al. Among authors: dobler neumann m. Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 23980586
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. Soehn AS, et al. Among authors: dobler neumann m. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17. Neurology. 2016. PMID: 27316240 Free PMC article.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Husain RA, et al. Among authors: dobler neumann m. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. Rattay TW, et al. Among authors: dobler neumann m. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102. Brain. 2019. PMID: 31135052 Free PMC article.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Among authors: dobler neumann m. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
Cerebellar lesions in pediatric abusive head trauma.
Haas-Lude K, Roulet-Perez E, Döbler-Neumann M, Groeschel S, Nägele T, Krägeloh-Mann I. Haas-Lude K, et al. Among authors: dobler neumann m. Eur J Paediatr Neurol. 2019 Jul;23(4):604-608. doi: 10.1016/j.ejpn.2019.05.001. Epub 2019 May 17. Eur J Paediatr Neurol. 2019. PMID: 31147107
12 results