Publikationen

  • Sigutova V, Xiang W, Regensburger M, Winner B, Prots I. Alpha-synuclein fine-tunes neuronal response to pro-inflammatory cytokines. Brain Behav Immun. 2024 Aug 14;122:216-230. doi: 10.1016/j.bbi.2024.08.015. Epub ahead of print. PMID: 39128571.
  • Mächtel R, Dobert JP, Hehr U, Weiss A, Kettwig M, Laugwitz L, Groeschel S, Schmidt M, Arnold P, Regensburger M, Zunke F. Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D. Ann Clin Transl Neurol. 2024 Jul;11(7):1715-1731. https://doi.org/10.1002/acn3.52078
  • Manibarathi K, Pham T, Hengel H, Synofzik M, Nagel M, Schüle R. An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines. Stem Cell Researc 2024; Apr; 76:103363. https://doi.org/10.1016/j.scr.2024.103363
  • Dobert JP, Bub S, Mächtel R, Januliene D, Steger L, Regensburger M, Wilfling S, Chen JX, Dejung M, Plötz S, Hehr U, Moeller A, Arnold P, Zunke F. Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease. Advanced Science 2024; Apr 26:e2401641. https://doi.org/10.1002/advs.202401641
  • Graessner H, Reinhard C, Bäumer T, Baumgärtner A, Brockmann K, Brüggemann N, Bültmann E, Erdmann J, Heise K, Höglinger G, Hüning I, Kaiser FJ, Klein C, Klopstock T, Krägeloh-Mann I, Kraemer M, Luedtke K, Mücke M, Musacchio T, Nadke A, Osmanovic A, Ritter G, Röse K, Schippers C, Schöls L, Schüle R, Schulz JB, Sproß J, Stasch E, Wunderlich G, Münchau A. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet journal of rare diseases 2024; 19(1): 62. https://doi.org/10.1186/s13023-024-03023-1
  • Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. Acta Neuropathologica 2024; 147(1): 28. https://doi.org/10.1007%2Fs00401-023-02675-w
  • Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Meneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2024; 99: 104931. https://doi.org/10.1016/j.ebiom.2023.104931
  • Regensburger M, Kinfe TM. Role of the adipocyte immune brain axis in Parkinson's disease: friend or foe? Natural Regeneration Research 2023; 18(11): 2399-2400. doi: 10.4103/1673-5374.369112
  • Montoro-Gámez C, Nolte H, Molinié T, Evangelista G, Tröder SE, Barth E, Popovic M, Trifunovic A, Zevnik B, Langer T, Rugarli EI. SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency. Brain 2023; 146(10): 4117-4131. DOI: 10.1093/brain/awad136

  • Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikić I, Hübner CA. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy. Nature 2023; 618(7964): 402-410. https://doi.org/10.1038/s41586-023-06090-9

  • Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanagasi HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD, consortium P, Synofzik M. Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients. Annals of Neurology 2023 Sep;94(3):470-485. DOI: 10.1002/ana.26712

  • Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD, Consortium P, Synofzik M. Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients. Annals of Neurology 2023 Sep;94(3):470-485. DOI: 10.1002/ana.26712

  • Jacobi H, Weiler M, Sam G, Heiland S, Hayes JM, Bendszus M, Schüle R, Hayes JC. Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography. European Journal of Neurology 2023; 30(8): 2442-2452. DOI: 10.1111/ene.15841

  • Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M. Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. Movement Disorders 2023; 38(6): 1109-1112. https://doi.org/10.1002/mds.29397
  • Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tetreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dube MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. New England Journal of Medicine 2023; 388(2): 128-141. https://doi.org/10.5334/tohm.835 
  • Loris E, Ollenschläger M, Greinwalder T, Eskofier B, Winkler J, Gaßner H, Regensburger M. Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegia. Annals of Clinical and Translational Neurology 2023; 10(3): 447-452. DOI: 10.1002/acn3.51725
  • Regensburger M, Rasul Chaudhry S, Yasin H, Zhao Y, Stadlbauer A, Buchfelder M, Kinfe T. Emerging roles of leptin in Parkinson's disease: Chronic inflammation, neuroprotection and more? Brain Behavior and Immunity 2023; 107: 53-61. DOI: 10.1016/j.bbi.2022.09.010
  • Hörner M, Groh J, Klein D, Ilg W, Schöls L, Dos Santos S, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators. Experimental Neurology 2022, 355:114119. DOI: 10.1016/j.expneurol.2022.114119
  • Gaßner H, Friedrich J, Masuch A, Jukic J, Stallforth S, Regensburger M, Marxreiter F, Winkler J, Klucken J. The Effects of an Individualized Smartphone-Based Exercise Program on Self-defined Motor Tasks in Parkinson Disease: Pilot Interventional Study. Jmir Rehabilitation Assistive Technologies 2022; 9(4): e38994. DOI: 10.2196/38994
  • Laßmann C, Ilg W, Schneider M, Völker M, Haeufle DFB, Schüle R, Giese M, Synofzik M, Schöls L, Rattay TW. Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study. Movement Disorders 2022; 37(12): 2417-2426. DOI: 10.1002/mds.29199
  • Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease. Genetics in Medicine 2022; 24(12): 2487-2500. DOI: 10.1016/j.gim.2022.08.019
  • Krach F, Stemick J, Boerstler T, Weiss A, Lingos I, Reischl S, Meixner H, Ploetz S, Farrell M, Hehr U, Kohl Z, Winner B, Winkler J. An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons. Nature Communications 2022; 13(1): 6797. DOI: 10.1038/s41467-022-34419-x
  • Kessler C, Ruschil C, Abdelhak A, Wilke C, Maleska A, Kuhle J, Krumbholz M, Kowarik MC, Schüle R. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4. International Journal of Molecular Sciences 2022; 23(21): 13466. DOI: 10.3390/ijms232113466
  • Nagel M, Noss M, Xu J, Horn N, Ueffing M, Boldt K, Schüle R. The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells. RNA 2022; 29(1): 55-68. DOI: 10.1261/rna.079426.122
  • Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Human Molecular Genetics 2022; 31(16): 2693-2710. DOI: 10.1093/hmg/ddac063
  • Ollenschläger M, Küderle A, Mehringer W, Seifer AK, Winkler J, Gassner H, Kluge F, Eskofier BM. MaD GUI: An Open-Source Python Package for Annotation and Analysis of Time-Series Data. Sensors (Basel) 2022; 22(15): 5849
  • Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW, Winner B. Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. Acta Neuropathologica Communications 2022; 144(3): 413-435. DOI: 10.1007/s00401-022-02450-3
  • Goerttler T, Zanetti L, Regoni M, Egger K, Kellner E, Deuschl C, Kleinschnitz C, Sassone J, Klebe S. Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene. Neurology: Genetics 2022; 8(3): e681. doi: 10.1212/NXG.0000000000000681
  • Lanfer J, Kaindl J, Krumm L, Acera MG, Neurath M, Regensburger M, Krach F, Winner B. Efficient and Easy Conversion of Human iPSCs into Functional Induced Microglia-like Cells. International Journal of Molecular Sciences 2022; 23(9): 12. DOI: 10.3390/ijms23094526
  • Korneck M, Wiora L, Schöls L, Hauser S. Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4. Stem Cell Research 2022; 60: 102741. DOI: 10.1016/j.scr.2022.102741
  • Goerttler T, Kwon EH, Fleischer M, Stettner M, Tönges L, Klebe S. SARS-CoV-2, COVID-19 and Parkinson's Disease-Many Issues Need to Be Clarified-A Critical Review. Brain Sciences 2022; 12(4): 456. https://doi.org/10.3390/brainsci12040456
  • Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders 2022; 37(6): 1175-1186. https://doi.org/10.1002/mds.28959
  • Kessler C, Serna-Higuita LM, Wilke C, Rattay TW, Hengel H, Reichbauer J, Stransky E, Leyva-Gutiérrez A, Mengel D, Synofzik M, Schöls L, Martus P, Schüle R. Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4. Annals of Clinical and Translational Neurology 2022; 9(3): 326-338. DOI: 10.1002/acn3.51518
  • Thierfelder A, Seemann J, John N, Harmuth F, Giese M, Schüle R, Schöls L, Timmann D, Synofzik M, Ilg W. Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia. Movement Disorders 2022; 37(5): 1047-1058. https://doi.org/10.1002/mds.28930
  • Rizo T, Gebhardt L, Riedlberger J, Eberhardt E, Fester L, Alansary D, Winkler J, Turan S, Arnold P, Niemeyer BA, Fischer MJM, Winner B. Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia. Brain 2022; 145(9): 3131-3146. DOI: 10.1093/brain/awac122
  • Khundadze M, Ribaudo F, Hussain A, Stahlberg H, Brocke-Ahmadinejad N, Franzka P, Varga RE, Zarkovic M, Pungsrinont T, Kokal M, Ganley IG, Beetz C, Sylvester M, Hübner CA. Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. Autophagy 2021; 17(11): 3690-3706. DOI: 10.1080/15548627.2021.1891848
  • Synofzik M, Van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A, consortium botMM. Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives. Nucleic Acid Therapeutics Epub 2021 Sep 29. DOI: 10.1089/nat.2021.0039
  • Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, Rauch A, Winner B. Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research2021; 56: 102520. DOI: 10.1016/j.scr.2021.102520
  • Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L, Synofzik M, Consortium P. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in Neurology 2021; 12: 677551. https://doi.org/10.3389/fneur.2021.677551
  • Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M, Solve-RD-DITF-RND, Consortium S-R. Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European Journal of Human Genetics 2021; 29(9): 1332-1336. DOI: 10.1038/s41431-021-00901-1
  • Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu CL, Meszarosova AU, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Firouzabadi SG, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Mau-Them FT, Haack T, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu YR, Wang YH, Suzuki Y, Koh K, Nan HT, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman O, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Bordes AC, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Varaghchi JR, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Zuchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J, Consortium GER, Network P. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021; 144(5): 1422-1434. DOI: 10.1093/brain/awab041
  • Kessler C, Serna-Higuita LM, Rattay TW, Maetzler W, Wurster I, Hayer S, Wilke C, Hengel H, Reichbauer J, Armbruster M, Schöls L, Martus P, Schüle R. Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia. Annals of Clinical and Translational Neurology 2021; 8(5): 1122-1131. https://doi.org/10.1002/acn3.51358 

  • Gaßner H, Sanders P, Dietrich A, Marxreiter F, Eskofier BM, Winkler J, Klucken J. Clinical Relevance of Standardized Mobile Gait Tests. Reliability Analysis Between Gait Recordings at Hospital and Home in Parkinson's Disease: A Pilot Study. Journal of Parkinson´s Disease 2020; 10(4): 1763-1773. DOI: 10.3233/JPD-202129

  • Schuster S, Heuten E, Velic A, Admard J, Synofzik M, Ossowski S, Macek B, Hauser S, Schöls L. CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons. Disease Models & Mechanisms 2020; 13(10): dmm045096. DOI: 10.1242/dmm.045096

  • Hauser S, Schuster S, Heuten E, Höflinger P, Admard J, Schelling Y, Velic A, Macek B, Ossowski S, Schöls L. Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models. Frontiers in Cell and Developmental Biology 2020; 8: 544043. https://doi.org/10.3389/fcell.2020.544043

  • 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 ACH, Chiang DN, Bolduc F, Tafakhori A, Mane S, Firouzabadi SG, 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. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. American Journal of Human Genetics 2020; 107(2): 364-373. https://doi.org/10.1016/j.ajhg.2020.06.015

  • Regensburger M, Schlachetzki JCM, Klekamp J, Doerfler A, Winkler J. Long-term course of anterior spinal cord herniation presenting with an upper motor neuron syndrome: case report illustrating diagnostic and therapeutic implications. BMC Neurology 2020; 20(1): 6. DOI: 10.1186/s12883-020-01891-1

  • Krach F, Bogiongko ME, Winner B. Decoding Parkinson's disease - iPSC-derived models in the OMICs era. Molecular and Cellular Neuroscience 2020; 106: 103501. DOI: 10.1016/j.mcn.2020.103501

  • Regensburger M, Minakaki G, Kettwig M, Huchzermeyer C, Eisenhut F, Haack TB, Kohl Z, Winkler J. Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa. Movement Disorders 2020; 35(7): 1280-1282. DOI: 10.1002/mds.28106

  • Oktay Y, Güngör S, Zeltner L, Wiethoff S, Schöls L, Sonmezler E, Yilmaz E, Munro B, Bender B, Kernstock C, Kaemereit S, Liepelt I, Töpf A, Yis U, Laurie S, Yaramis A, Zuchner S, Hiz S, Lochmüller H, Schüle R, Horvath R. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. Journal of Neuromuscular Diseases 2020; 7(3): 301-308. DOI: 10.3233/JND-200510

  • Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai YH, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Isasi R, Khan A, Laurá M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang BS, Lin ZQ, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang RX, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S, Inherited Neuropathy C. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics 2020; 52(5): 473-481. https://doi.org/10.1038/s41588-020-0615-4

  • Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature Communications 2019; 10(1): 4790. https://doi.org/10.1038/s41467-019-12620-9