Van de Vondel L, De Winter J, Beijer D, et al. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Mov Disord 2022.
Rebelo AP, Ruiz A, Dohrn MF, et al. BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease. Genet Med 2022.
Rebelo AP, Bender B, Haack TB, Zuchner S, Basak AN, Synofzik M. Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes. Brain 2022.
Pellerin D, Danzi MC, Wilke C, et al. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med 2022.
Morikawa M, Jerath NU, Ogawa T, et al. A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. Embo j 2022.
Meshnik L, Bar-Yaacov D, Kasztan D, et al. Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness. BMC Biol 2022.
Frezatti RSS, Tomaselli PJ, Figueiredo FB, Zuchner S, Reilly MM, Marques W, Jr. Conduction block and temporal dispersion in a SIGMAR1-related neuropathy. J Peripher Nerv Syst 2022.
Fazal S, Danzi MC, van Kuilenburg ABP, et al. Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. Hum Mol Genet 2022.
Dohrn MF, Rebelo AP, Srivastava S, et al. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology 2022.
De Winter J, Van de Vondel L, Züchner S, Ortibus E, Baets J. A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia. Ann Neurol 2022.
Cipriani S, Guerrero-Valero M, Tozza S, et al. Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy. Eur J Neurol 2022.
Borja N, Bivona S, Peart LS, et al. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med 2022.
Beijer D, Züchner SL. Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures. Front Mol Neurosci 2022.
Beijer D, Polavarapu K, Preethish-Kumar V, et al. Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report. J Neuromuscul Dis 2022.
Beijer D, Dohrn MF, De Winter J, et al. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. Eur J Neurol 2022.
Wiessner M, Maroofian R, Ni MY, et al. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021.
Traschütz A, Reich S, Adarmes AD, et al. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol 2021.
Rebelo AP, Eidhof I, Cintra VP, et al. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain 2021.
Rebelo AP, Cortese A, Abraham A, et al. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain 2021.
Lin TH, Bis-Brewer DM, Sheehan AE, et al. TSG101 negatively regulates mitochondrial biogenesis in axons. Proc Natl Acad Sci U S A 2021.
Gilley J, Jackson O, Pipis M, et al. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Elife 2021.
De Winter J, Beijer D, De Ridder W, et al. PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway. Brain 2021.
Collier JJ, Guissart C, Oláhová M, et al. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. N Engl J Med 2021.
Cintra VP, Dohrn MF, Tomaselli PJ, et al. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. J Neurol Sci 2021.
Chen Z, Maroofian R, BaÅŸak AN, et al. Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. Eur J Neurol 2021.
Boulanger A, Thinat C, Züchner S, Fradkin LG, Lortat-Jacob H, Dura JM. Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling. Nat Commun 2021.
Stanek D, Bis-Brewer DM, Saghira C, et al. Prot2HG: a database of protein domains mapped to the human genome. Database (Oxford) 2020.
Senderek J, Lassuthova P, Kabzińska D, et al. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Neurology 2020.
Safka Brozkova D, Stojkovic T, Haberlová J, et al. Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations. Eur J Neurol 2020.
Pipis M, Feely SME, Polke JM, et al. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain 2020.
Oktay Y, Güngör S, Zeltner L, et al. Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families. J Neuromuscul Dis 2020.
Motley WW, Züchner S, Scherer SS. Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy. Neurol Genet 2020.
Morani F, Doccini S, Chiorino G, et al. Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology. Front Neurol 2020.
Mendoza-Ferreira N, Karakaya M, Cengiz N, et al. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet 2020.
Fazal S, Danzi MC, Cintra VP, et al. Large scale in silico characterization of repeat expansion variation in human genomes. Sci Data 2020.
Cortese A, Zhu Y, Rebelo AP, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 2020.
Bis-Brewer DM, Gan-Or Z, Sleiman P, et al. Assessing non-Mendelian inheritance in inherited axonopathies. Genet Med 2020.
Akçakaya NH, ÖzeÅŸ Ak B, Gonzalez MA, Züchner S, BattaloÄŸlu E, Parman Y. Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey. Neurol Neurochir Pol 2020.
Harada Y, Zuchner SL, Herrmann DN, Veerapandiyan A. Clinical Reasoning: A case of bilateral foot drop in a 74-year-old man. Neurology. 2020. PMID: 32041727.
Perenthaler E, Nikoncuk A, Yousefi S, et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol. 2020:415-442. PMID: 31820119.
Hengel H, Bosso-Lefèvre C, Grady G, et al. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020:595. PMID: 32001716.
Cortese A, Tozza S, Yau WY, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020:480-490. PMID: 32040566.
Manganelli F, Parisi S, Nolano M, et al. Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs. J Peripher Nerv Syst. 2019:330-339. PMID: 31707753.
Pipis M, Rossor AM, Laura M, Reilly MM. Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 2019:644-656. PMID: 31582811.
Kremer L.S., McCormick E.M., Prokisch H., Falk M.J. (2019) Mitochondrial Disease Genetics. In: Mancuso M., Klopstock T. (eds) Diagnosis and Management of Mitochondrial Disorders. Springer, Cham
Stregapede F, Travaglini L, Rebelo AP, et al. Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Clin Genet. 2020. PMID: 31705535.
Wagner M, Osborn DPS, Gehweiler I, et al. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun. 2019:4790. PMID: 31636353.
Farazi Fard MA, Rebelo AP, Buglo E, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Am J Hum Genet. 2019:1251. PMID: 31173719.
Rattay TW, Lindig T, Baets J, et al. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain. 2019:1561-1572. PMID: 31135052.
Horga A, Bugiardini E, Manole A, et al. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurol Genet. 2019. PMID: 31119193.
Correard S, Plassais J, Lagoutte L, et al. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet. 2019:455-466. PMID: 30955094.
Tao F, Beecham GW, Rebelo AP, et al. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis. 2019:201-211. PMID: 30958311.
Farazi Fard MA, Rebelo AP, Buglo E, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Am J Hum Genet. 2019:767-773. PMID: 30929741.
Cortese A, Simone R, Sullivan R, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019:649-658. PMID: 30926972.
Phillips J, Courel S, Rebelo AP, et al. POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019:213-218. PMID: 30843307.
Bis-Brewer DM, Danzi MC, Wuchty S, Züchner S. A network biology approach to unraveling inherited axonopathies. Sci Rep. 2019:1692. PMID: 30737464.
Tao F, Beecham GW, Rebelo AP, et al; Inherited Neuropathy Consortium. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019:316-330. PMID: 30706531.
Dankwa L, Richardson J, Motley WW, et al. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019:134-137. PMID: 30642740.
Meister-Broekema M, Freilich R, Jagadeesan C, et al. Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nat Commun. 2018:5342. PMID: 30559338.
Montes-Chinea NI, Guan Z, Coutts M, et al. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurol Genet. 2018. PMID: 30533528.
Abrams AJ, Fontanesi F, Tan NBL, et al. Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Hum Mutat. 2018:1995-2007. PMID: 30178502.
Capel E, Vatier C, Cervera P, et al. MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue. J Clin Lipidol. 2018:1420-1435.
Eidhof I, Baets J, Kamsteeg E-J, et al. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain. 2018;2016(Pt B):baw093. doi:10.1093/brain/awy198.
Kitamura A. TDP-43 depletion: mechanism of neuronal cell death in ALS. https://doiorg/102217/fnl-2018-0010. 2018;13(3):143-149. doi:10.2217/fnl-2018-0010.
Howell RR, Zuchner S. MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases. Genet Med. 2018;377:1. doi:10.1038/s41436-018-0086-5.
Synofzik M, Helbig KL, Harmuth F, et al. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet. 2018;7:1. doi:10.1038/s41431-018-0206-3.
Rebelo AP, Saade D, Pereira CV, et al. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018;141(3):662-672. doi:10.1093/brain/awx369.
Dankwa L, Richardson J, Motley WW, Zuchner S, Scherer SS. A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst. 2018;23(1):36-39. doi:10.1111/jns.12248.
Lassuthova P, Rebelo AP, Ravenscroft G, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. The American Journal of Human Genetics. 2018;102(3):505-514. doi:10.1016/j.ajhg.2018.01.023.
Mendoza-Ferreira N, Coutelier M, Janzen E, et al. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet. 2018;4(1):e209. doi:10.1212/NXG.0000000000000209.
Wilke C, Baets J, De Bleecker JL, et al. Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes. Neurobiol Aging. 2018.
D'Amore A, Tessa A, Casali C, et al. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. Front Neurol. 2018:981. PMID: 30564185.
Hayer SN, Deconinck T, Bender B, et al. STUB1 /CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet J Rare Dis. 2017;12(1):31. doi:10.1186/s13023-017-0580-x.
Mackenzie IR, Nicholson AM, Sarkar M, et al. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 2017;95(4):808-816.e809. doi:10.1016/j.neuron.2017.07.025.
Shy M, Rebelo AP, Feely SM, et al. Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2017;65(3):jnnp–2017–315929–315. doi:10.1136/jnnp-2017-315929.
Zou Y, Donkervoort S, Salo AM, et al. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet. 2017;26(12):2207-2217. doi:10.1093/hmg/ddx110.
Minnerop M, Kurzwelly D, Wagner H, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140(6):1561-1578. doi:10.1093/brain/awx095.
Manganelli F, Parisi S, Nolano M, et al. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology. 2017;88(22):2132-2140. doi:10.1212/WNL.0000000000003992.
Horga A, Laurá M, Jaunmuktane Z, et al. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatr. May 2017:jnnp–2016–315077. doi:10.1136/jnnp-2016-315077.
Abbott JA, Meyer-Schuman R, Lupo V, et al. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat. 2018 Mar;39(3):415-432. PMID: 29235198.
Boycott KM, Rath A, Chong JX, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet. 2017;100(5):695-705. doi:10.1016/j.ajhg.2017.04.003.
Qu C, Liang F, Long Q, et al. Genetic screening revealed usher syndrome in a paediatric Chinese patient. Hearing, Balance and Communication. 2017;81:1-9. doi:10.1080/21695717.2017.1321217.
Boycott KM, Rath A, Chong JX, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.The American Journal of Human Genetics. 2017;100(5):695-705. doi:10.1016/j.ajhg.2017.04.003.
Hengel H, Magee A, Mahanjah M, et al. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.Neurol Genet. 2017;3(2):e144. doi:10.1212/NXG.0000000000000144.
Tsai P-C, Soong B-W, Mademan I, et al. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017;140(5):1252-1266. doi:10.1093/brain/awx058.
Ozes B, Karagoz N, Schüle R, et al. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet. 2017;33(5):814. doi:10.1111/cge.13008.
Hayer SN, Deconinck T, Bender B, et al. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet J Rare Dis. 2017;12(1):31. doi:10.1186/s13023-017-0580-x.
Estrada-Cuzcano A, Martin S, Chamova T, et al. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain. 2017;140(Pt 2):287-305. doi:10.1093/brain/aww307.
Aras S, Arrabi H, Purandare N, et al. Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration. Biochim Biophys Acta. 2017;1864(2):440-448. doi:10.1016/j.bbamcr.2016.11.029.
Magariello A, Russo C, Citrigno L, et al. Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments. J Neurol Sci. 2017;372:347-349. doi:10.1016/j.jns.2016.11.069.
Köhler S, Vasilevsky NA, Engelstad M, et al. The Human Phenotype Ontology in 2017. Nucleic Acids Res. 2017;45(D1):D865-D876. doi:10.1093/nar/gkw1039.
Thompson R, Robertson A, Lochmüller H. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. In: Rare Diseases Epidemiology: Update and Overview. Vol 1031. Advances in Experimental Medicine and Biology. Cham: Springer, Cham; 2017:97-124. doi:10.1007/978-3-319-67144-4_5.
Hu B, Arpag S, Zuchner S, Li J. A novel missense mutation of CMT2P alters transcription machinery. Ann Neurol. 2016;80(6):834-845. doi:10.1002/ana.24776.
Pottier C, Ravenscroft TA, Brown PH, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiol Aging. 2016;48:222.e9-222.e15. doi:10.1016/j.neurobiolaging.2016.07.028.
Tang W, Huang T, Xu Z, Huang Y. Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy. Journal of Clinical Gastroenterology. November 2016:1. doi:10.1097/MCG.0000000000000739.
Lee C-H, Rimesso G, Reynolds DM, Cai J, Baker NE. Whole-Genome Sequencing and iPLEX MassARRAY Genotyping Map an EMS-Induced Mutation Affecting Cell Competition in Drosophila melanogaster. G3 (Bethesda). 2016;6(10):3207-3217. doi:10.1534/g3.116.029421.
Horga A, Tomaselli PJ, Gonzalez MA, et al. SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology. 2016;87(15):1607-1612. doi:10.1212/WNL.0000000000003212.
Perez-Siles G, Grant A, Ellis M, et al. Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics. 2016;8(9):981-992. doi:10.1039/c6mt00082g.
Auer-Grumbach M, Toegel S, Schabhüttl M, et al. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016;99(3):607-623. doi:10.1016/j.ajhg.2016.07.008.
Kahle KT, Flores B, Bharucha-Goebel D, et al. Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal. 2016;9(439):ra77-ra77. doi:10.1126/scisignal.aae0546.
Yan D, Tekin D, Bademci G, et al. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet. 2016;135(8):953-961. doi:10.1007/s00439-016-1697-z.
Mademan I, Harmuth F, Giordano I, et al. Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. Brain. 2016;139(Pt 8):e46-e46. doi:10.1093/brain/aww115.
Soehn AS, Rattay TW, Beck-Wödl S, et al. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016;87(2):186-191. doi:10.1212/WNL.0000000000002843.
Brewer MH, Chaudhry R, Qi J, et al. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. Girirajan S, ed. PLoS Genet. 2016;12(7):e1006177. doi:10.1371/journal.pgen.1006177.
Motley WW, Palaima P, Yum SW, et al. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 6):1649-1656. doi:10.1093/brain/aww055.
Denora PS, Smets K, Zolfanelli F, et al. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain. 2016;139(Pt 6):1723-1734. doi:10.1093/brain/aww061.
Shen L, Diroma MA, Gonzalez M, et al. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat. 2016;37(6):540-548. doi:10.1002/humu.22974.
Tuschl K, Meyer E, Valdivia LE, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016;7:11601. doi:10.1038/ncomms11601.
Diaz-Horta O, Abad C, Sennaroglu L, et al. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice. Proc Natl Acad Sci USA. 2016;113(21):5993-5998. doi:10.1073/pnas.1522512113.
Balicza P, Grosz Z, Gonzalez MA, et al. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. J Neurol Sci. 2016;364:116-121. doi:10.1016/j.jns.2016.03.018.
Synofzik M, Smets K, Mallaret M, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016;139(Pt 5):1378-1393. doi:10.1093/brain/aww079.
Rebelo AP, Abrams AJ, Cottenie E, et al. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. Am J Hum Genet. 2016;98(4):597-614. doi:10.1016/j.ajhg.2016.02.022.
Lassuthova P, Safka Brozkova D, Krůtová M, et al. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene. Brain. 2016;139(Pt 4):e26-e26. doi:10.1093/brain/awv411.
Schüle R, Wiethoff S, Martus P, et al. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol. 2016;79(4):646-658. doi:10.1002/ana.24611.
Tekin D, Yan D, Bademci G, et al. A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes. Hear Res. 2016;333:179-184. doi:10.1016/j.heares.2016.01.018.
Albulym OM, Kennerson ML, Harms MB, et al. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann Neurol. 2016;79(3):419-427. doi:10.1002/ana.24575.
Kohli MA, Cukier HN, Hamilton-Nelson KL, et al. Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease. Neurol Genet. 2016;2(1):e41. doi:10.1212/NXG.0000000000000041.
Joyce PI, Fratta P, Landman AS, et al. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Hum Mol Genet. 2016;25(2):291-307. doi:10.1093/hmg/ddv471.
Zuchner S. Introduction to Applications of Genomic Sequencing. In: Genetic Diagnosis of Endocrine Disorders. Academic Press; 2016:427-433. doi:10.1016/B978-0-12-800892-8.00030-0.
Kozol RA, Abrams AJ, James DM, Buglo E, Yan Q, Dallman JE. Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish. Front Mol Neurosci. 2016;9:55. doi:10.3389/fnmol.2016.00055.
Schmidt WM, Rutledge SL, Schüle R, et al. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Am J Hum Genet. 2015;97(6):855-861. doi:10.1016/j.ajhg.2015.10.011.
Whittaker RG, Herrmann DN, Bansagi B, et al. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology. 2015;85(22):1964-1971. doi:10.1212/WNL.0000000000002185.
Chardon JW, Smith AC, Woulfe J, et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015;88(6):558-564. doi:10.1111/cge.12561.
Donkervoort S, Papadaki M, de Winter JM, et al. TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol. 2015;78(6):982-994. doi:10.1002/ana.24535.
Rossor AM, Oates EC, Salter HK, et al. Reply: The p.Ser107Leu in BICD2 is a mutation “hot spot” causing distal spinal muscular atrophy. Brain. 2015;138(Pt 11):e392-e392. doi:10.1093/brain/awv160.
Lawler M, Siu LL, Rehm HL, et al. All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health. Cancer Discov. 2015;5(11):1133-1136. doi:10.1158/2159-8290.CD-15-0821.
Thal DR, Zuchner S, Gierer S, et al. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. Int J Mol Sci. 2015;16(10):25050-25066. doi:10.3390/ijms161025050.
Brennan KM, Bai Y, Pisciotta C, et al. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2015;25(10):786-793. doi:10.1016/j.nmd.2015.07.001.
Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform. Boycott K, Hamosh A, Rehm H, eds. Hum Mutat. 2015;36(10):950-956. doi:10.1002/humu.22836.
Philippakis AA, Azzariti DR, Beltran S, et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Boycott K, Hamosh A, Rehm H, eds. Hum Mutat. 2015;36(10):915-921. doi:10.1002/humu.22858.
Philippakis AA, Azzariti DR, Beltran S, et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Boycott K, Hamosh A, Rehm H, eds. Hum Mutat. 2015;36(10):915-921. doi:10.1002/humu.22858.
Atik T, Koparir A, Bademci G, et al. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015;10(1):128. doi:10.1186/s13023-015-0345-3.
Hirst J, Edgar JR, Esteves T, et al. Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum Mol Genet. 2015;24(17):4984-4996. doi:10.1093/hmg/ddv220.
Strickland AV, Schabhüttl M, Offenbacher H, et al. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. J Neurol. 2015;262(9):2124-2134. doi:10.1007/s00415-015-7727-2.
Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. Curr Neurol Neurosci Rep. 2015;15(9):64. doi:10.1007/s11910-015-0584-7.
Soualmia LF, Lecroq T. Bioinformatics Methods and Tools to Advance Clinical Care. Findings from the Yearbook 2015 Section on Bioinformatics and Translational Informatics. Yearb Med Inform. 2015;10(1):170-173. doi:10.15265/IY-2015-026.
Coutelier M, Goizet C, Dürr A, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015;138(Pt 8):2191-2205. doi:10.1093/brain/awv143.
Chakchouk I, Grati M, Bademci G, et al. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015;290(4):1327-1334. doi:10.1007/s00438-015-0995-9.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015;47(8):926-932. doi:10.1038/ng.3354.
Safka Brozkova D, Deconinck T, Griffin LB, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain. 2015;138(Pt 8):2161-2172. doi:10.1093/brain/awv158.
Smets K, Duarri A, Deconinck T, et al. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Med Genet. 2015;16(1):51. doi:10.1186/s12881-015-0200-3.
Candela H, Casanova-Sáez R, Micol JL. Getting started in mapping-by-sequencing. J Integr Plant Biol. 2015;57(7):606-612. doi:10.1111/jipb.12305.
Tétreault M, Gonzalez M, Dicaire M-J, et al. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain. 2015;138(Pt 6):1477-1483. doi:10.1093/brain/awv074.
Syrbe S, Hedrich UBS, Riesch E, et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet. 2015;47(4):393-399. doi:10.1038/ng.3239.
Falk MJ, Shen L, Gonzalez M, et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 2015;114(3):388-396. doi:10.1016/j.ymgme.2014.11.016.
Roos A, Weis J, Korinthenberg R, et al. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. J Peripher Nerv Syst. 2015;20(1):52-59. doi:10.1111/jns.12106.
Rossor AM, Oates EC, Salter HK, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain. 2015;138(Pt 2):293-310. doi:10.1093/brain/awu356.
Genetic Diagnosis of Endocrine Disorders. 2015.
Synofzik M, Haack TB, Kopajtich R, et al. Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration. Am J Hum Genet. 2014;95(6):689-697. doi:10.1016/j.ajhg.2014.10.013.
Cottenie E, Kochanski A, Jordanova A, et al. Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2. Am J Hum Genet. 2014;95(5):590-601. doi:10.1016/j.ajhg.2014.10.002.
Haelterman NA, Jiang L, Li Y, et al. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Res. 2014;24(10):1707-1718. doi:10.1101/gr.174615.114.
Herrmann DN, Horvath R, Sowden JE, et al. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014;95(3):332-339. doi:10.1016/j.ajhg.2014.08.007.
Lecroq T, Soualmia LF. Managing large-scale genomic datasets and translation into clinical practice. Yearb Med Inform. 2014;9(1):212-214. doi:10.15265/IY-2014-0039.
Gonzalez MA, Feely SM, Speziani F, et al. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain. August 2014:awu224. doi:10.1093/brain/awu224.
Bonifert T, Karle KN, Tonagel F, et al. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain. 2014;137(Pt 8):2164-2177. doi:10.1093/brain/awu165.
Liu Y-T, Laurá M, Hersheson J, et al. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. July 2014:10.1212/WNL.0000000000000691. doi:10.1212/WNL.0000000000000691.
Neukomm LJ, Burdett TC, Gonzalez MA, Zuchner S, Freeman MR. Rapid in vivo forward genetic approach for identifying axon death genes in Drosophila. Proc Natl Acad Sci USA. 2014;111(27):9965-9970. doi:10.1073/pnas.1406230111.
Diaz-Horta O, Subasioglu-Uzak A, Grati M, et al. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proc Natl Acad Sci USA. 2014;111(27):9864-9868. doi:10.1073/pnas.1401950111.
Caballero Oteyza A, BattaloÄŸlu E, Ocek L, et al. Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology. 2014;82(22):2007-2016. doi:10.1212/WNL.0000000000000479.
Thorson W, Diaz-Horta O, Foster J, et al. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet. 2014;133(6):737-742. doi:10.1007/s00439-013-1406-0.
Long OS, Benson JA, Kwak JH, et al. A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover. Hum Mol Genet. May 2014:ddu235. doi:10.1093/hmg/ddu235.
Brewer MH, Ma KH, Beecham GW, et al. Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. Hum Mol Genet. May 2014:ddu240. doi:10.1093/hmg/ddu240.
Carney RM, Kohli MA, Kunkle BW, et al. Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. Alzheimers Dement. 2014;10(3):360-365. doi:10.1016/j.jalz.2013.02.011.
Yariz KO, Sakalar YB, Jin X, et al. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. Clin Genet. April 2014:n/a–n/a. doi:10.1111/cge.12374.
Magariello A, Citrigno L, Züchner S, et al. Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Eur J Neurol. 2014;21(3):e25-e26. doi:10.1111/ene.12305.
Esteves T, Dürr A, Mundwiller E, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet. 2014;94(2):268-277. doi:10.1016/j.ajhg.2013.12.005.
Mallaret M, Synofzik M, Lee J, et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137(Pt 2):411-419. doi:10.1093/brain/awt338.
Foley AR, Menezes MP, Pandraud A, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014;137(Pt 1):44-56. doi:10.1093/brain/awt315.
Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. 2014;137(Pt 1):69-77. doi:10.1093/brain/awt326.
Dolzhanskaya N, Gonzalez MA, Sperziani F, et al. A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. J Alzheimers Dis. 2014;39(1):23-27. doi:10.3233/JAD-131340.
Qing J, Yan D, Zhou Y, et al. Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating. Janecke AR, ed. PLoS ONE. 2014;9(10):e109178. doi:10.1371/journal.pone.0109178.
Timmerman V, Strickland AV, Zuchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes (Basel). 2014;5(1):13-32. doi:10.3390/genes5010013.
Synofzik M, Schüle R, Schulze M, et al. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis. 2014;9(1):57. doi:10.1186/1750-1172-9-57.
Foster J, Kapoor S, Diaz-Horta O, et al. Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction. Clin Genet. December 2013:n/a–n/a. doi:10.1111/cge.12321.
Sumner CJ, d'Ydewalle C, Wooley J, et al. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013;93(5):976-983. doi:10.1016/j.ajhg.2013.10.006.
Gonzalez M, McLaughlin H, Houlden H, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatr. 2013;84(11):1247-1249. doi:10.1136/jnnp-2013-305049.
Gonzalez M, Nampoothiri S, Kornblum C, et al. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Eur J Hum Genet. 2013;21(11):1214-1218. doi:10.1038/ejhg.2013.29.
Landouré G, Zhu P-P, Lourenço CM, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013;34(10):1357-1360. doi:10.1002/humu.22378.
Ozçakar ZB, Foster J, Diaz-Horta O, et al. DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome. Arthritis Rheum. 2013;65(8):2183-2189. doi:10.1002/art.38010.
Boukhris A, Schüle R, Loureiro JL, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet. 2013;93(1):118-123. doi:10.1016/j.ajhg.2013.05.006.
Oates EC, Rossor AM, Hafezparast M, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet. 2013;92(6):965-973. doi:10.1016/j.ajhg.2013.04.018.
Gonzalez MA, Lebrigio RFA, Van Booven D, et al. GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat. 2013;34(6):842-846. doi:10.1002/humu.22305.
Varga R-E, Schüle R, Fadel H, et al. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum Mutat. 2013;34(6):860-863. doi:10.1002/humu.22309.
Tekin M, Chioza BA, Matsumoto Y, et al. SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest. 2013;123(5):2094-2102. doi:10.1172/JCI65853.
Kennerson ML, Yiu EM, Chuang DT, et al. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Genet. 2013;22(7):1404-1416. doi:10.1093/hmg/dds557.
Norton N, Li D, Rampersaud E, et al. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet. 2013;6(2):144-153. doi:10.1161/CIRCGENETICS.111.000062.
Uzak AS, Tokgoz B, Dundar M, Tekin M. A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. Genet Test Mol Biomarkers. 2013;17(3):260-264. doi:10.1089/gtmb.2012.0340.
Martin E, Schüle R, Smets K, et al. Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia. The American Journal of Human Genetics. 2013;92(2):238-244. doi:10.1016/j.ajhg.2012.11.021.
Falcone M, Yariz KO, Ross DB, Foster J, Menendez I, Tekin M. An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. Janecke AR, ed. PLoS ONE. 2013;8(12):e82810-e82810. doi:10.1371/journal.pone.0082810.
Vester A, Velez-Ruiz G, McLaughlin HM, et al. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013;34(1):191-199. doi:10.1002/humu.22210.
Tesson C, Nawara M, Salih MAM, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012;91(6):1051-1064. doi:10.1016/j.ajhg.2012.11.001.
Zimoń M, Baets J, Almeida-Souza L, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012;44(10):1080-1083. doi:10.1038/ng.2406.
Osterloh JM, Yang J, Rooney TM, et al. dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science. 2012;337(6093):481-484. doi:10.1126/science.1223899.
Montenegro G, Rebelo AP, Connell J, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest. 2012;122(2):538-544. doi:10.1172/JCI60560.
McLaughlin HM, Sakaguchi R, Giblin W, et al. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. 2012;33(1):244-253. doi:10.1002/humu.21635.
Velinov M, Dolzhanskaya N, Gonzalez M, et al. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. Schuelke M, ed. PLoS ONE. 2012;7(1):e29729-e29729. doi:10.1371/journal.pone.0029729.
Gonzalez MA, Van Booven D, Hulme W, et al. Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens. Biology (Basel). 2012;1(3):766-777. doi:10.3390/biology1030766.
Diaz-Horta O, Duman D, Foster J, et al. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS ONE. 2012;7(11):e50628. doi:10.1371/journal.pone.0050628.
Sirmaci A, Spiliopoulos M, Brancati F, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011;89(2):289-294. doi:10.1016/j.ajhg.2011.06.007.
136.Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011;69(3):464-470. doi:10.1002/ana.22235.
Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform. Boycott K, Hamosh A, Rehm H, eds. Hum Mutat. 2015;36(10):950-956. doi:10.1002/humu.22836.