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Items: 1 to 50 of 238

1.

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden.

Yilmaz R, Müller K, Brenner D, Volk AE, Borck G, Hermann A, Meitinger T, Strom TM, Danzer KM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS Network MND-NET.

Neurobiol Aging. 2019 Nov 2. pii: S0197-4580(19)30382-3. doi: 10.1016/j.neurobiolaging.2019.10.018. [Epub ahead of print]

PMID:
31859009
2.

Targeted Multiple Reaction Monitoring Analysis of CSF Identifies UCHL1 and GPNMB as Candidate Biomarkers for ALS.

Zhu S, Wuolikainen A, Wu J, Öhman A, Wingsle G, Moritz T, Andersen PM, Forsgren L, Trupp M.

J Mol Neurosci. 2019 Dec;69(4):643-657. doi: 10.1007/s12031-019-01411-y. Epub 2019 Nov 12.

3.

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.

Naumann M, Peikert K, Günther R, van der Kooi AJ, Aronica E, Hübers A, Danel V, Corcia P, Pan-Montojo F, Cirak S, Haliloglu G, Ludolph AC, Goswami A, Andersen PM, Prudlo J, Wegner F, Van Damme P, Weishaupt JH, Hermann A.

Ann Clin Transl Neurol. 2019 Dec;6(12):2384-2394. doi: 10.1002/acn3.50930. Epub 2019 Nov 4.

4.

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.

Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET .

Brain. 2019 Dec 1;142(12):e67. doi: 10.1093/brain/awz306. No abstract available.

PMID:
31612906
5.

Neurofilaments in pre-symptomatic ALS and the impact of genotype.

Benatar M, Wuu J, Lombardi V, Jeromin A, Bowser R, Andersen PM, Malaspina A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(7-8):538-548. doi: 10.1080/21678421.2019.1646769. Epub 2019 Aug 21.

PMID:
31432691
6.

An observational study on quality of life and preferences to sustain life in locked-in state.

Kuzma-Kozakiewicz M, Andersen PM, Ciecwierska K, Vázquez C, Helczyk O, Loose M, Uttner I, Ludolph AC, Lulé D.

Neurology. 2019 Sep 3;93(10):e938-e945. doi: 10.1212/WNL.0000000000008064. Epub 2019 Aug 7.

7.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R.

N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. No abstract available.

PMID:
31314961
8.

Influence of Environment and Lifestyle on Incidence and Progress of Amyotrophic Lateral Sclerosis in A German ALS Population.

Korner S, Kammeyer J, Zapf A, Kuzma-Kozakiewicz M, Piotrkiewicz M, Kuraszkiewicz B, Goszczynska H, Gromicho M, Grosskreutz J, Andersen PM, de Carvalho M, Petri S.

Aging Dis. 2019 Apr 1;10(2):205-216. doi: 10.14336/AD.2018.0327. eCollection 2019 Apr.

9.

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.

Forsberg K, Graffmo K, Pakkenberg B, Weber M, Nielsen M, Marklund S, Brännström T, Andersen PM.

J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):861-869. doi: 10.1136/jnnp-2018-319386. Epub 2019 Apr 16.

10.

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension.

Keskin I, Forsgren E, Lehmann M, Andersen PM, Brännström T, Lange DJ, Synofzik M, Nordström U, Zetterström P, Marklund SL, Gilthorpe JD.

Acta Neuropathol. 2019 Jul;138(1):85-101. doi: 10.1007/s00401-019-01986-1. Epub 2019 Mar 12.

11.

The Swedish motor neuron disease quality registry.

Longinetti E, Regodón Wallin A, Samuelsson K, Press R, Zachau A, Ronnevi LO, Kierkegaard M, Andersen PM, Hillert J, Fang F, Ingre C.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Nov;19(7-8):528-537. doi: 10.1080/21678421.2018.1497065. Epub 2018 Oct 9.

PMID:
30296856
12.

Mutant superoxide dismutase aggregates from human spinal cord transmit amyotrophic lateral sclerosis.

Ekhtiari Bidhendi E, Bergh J, Zetterström P, Forsberg K, Pakkenberg B, Andersen PM, Marklund SL, Brännström T.

Acta Neuropathol. 2018 Dec;136(6):939-953. doi: 10.1007/s00401-018-1915-y. Epub 2018 Oct 3.

13.

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis.

Paré B, Lehmann M, Beaudin M, Nordström U, Saikali S, Julien JP, Gilthorpe JD, Marklund SL, Cashman NR, Andersen PM, Forsberg K, Dupré N, Gould P, Brännström T, Gros-Louis F.

Sci Rep. 2018 Sep 21;8(1):14223. doi: 10.1038/s41598-018-31773-z.

14.

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.

Canosa A, De Marco G, Lomartire A, Rinaudo MT, Di Cunto F, Turco E, Barberis M, Brunetti M, Casale F, Moglia C, Calvo A, Marklund SL, Andersen PM, Mora G, Chiò A.

Neurobiol Aging. 2018 Dec;72:189.e11-189.e17. doi: 10.1016/j.neurobiolaging.2018.08.014. Epub 2018 Aug 24.

PMID:
30236613
15.

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase.

Oeckl P, Weydt P, Steinacker P, Anderl-Straub S, Nordin F, Volk AE, Diehl-Schmid J, Andersen PM, Kornhuber J, Danek A, Fassbender K, Fliessbach K; German Consortium for Frontotemporal Lobar Degeneration, Jahn H, Lauer M, Müller K, Knehr A, Prudlo J, Schneider A, Thal DR, Yilmazer-Hanke D, Weishaupt JH, Ludolph AC, Otto M.

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):4-10. doi: 10.1136/jnnp-2018-318868. Epub 2018 Sep 17.

PMID:
30224549
16.

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.

Volk AE, Weishaupt JH, Andersen PM, Ludolph AC, Kubisch C.

Med Genet. 2018;30(2):252-258. doi: 10.1007/s11825-018-0185-3. Epub 2018 Jul 13. Review.

17.

Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.

Helferich AM, Brockmann SJ, Reinders J, Deshpande D, Holzmann K, Brenner D, Andersen PM, Petri S, Thal DR, Michaelis J, Otto M, Just S, Ludolph AC, Danzer KM, Freischmidt A, Weishaupt JH.

Cell Mol Life Sci. 2018 Dec;75(23):4301-4319. doi: 10.1007/s00018-018-2873-1. Epub 2018 Jul 20.

PMID:
30030593
18.

Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion.

Benatar M, Wuu J, Andersen PM, Lombardi V, Malaspina A.

Ann Neurol. 2018 Jul;84(1):130-139. doi: 10.1002/ana.25276. Epub 2018 Aug 16.

PMID:
30014505
19.

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.

Higelin J, Catanese A, Semelink-Sedlacek LL, Oeztuerk S, Lutz AK, Bausinger J, Barbi G, Speit G, Andersen PM, Ludolph AC, Demestre M, Boeckers TM.

Stem Cell Res. 2018 Jul;30:150-162. doi: 10.1016/j.scr.2018.06.005. Epub 2018 Jun 12.

20.

Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.

Gromicho M, Pinto S, Gisca E, Pronto-Laborinho AC, Andersen PM, de Carvalho M.

Neurobiol Aging. 2018 Oct;70:325.e7-325.e15. doi: 10.1016/j.neurobiolaging.2018.05.009. Epub 2018 May 14.

PMID:
29861044
21.

Therapeutic decisions in ALS patients: cross-cultural differences and clinical implications.

Andersen PM, Kuzma-Kozakiewicz M, Keller J, Aho-Oezhan HEA, Ciecwierska K, Szejko N, Vázquez C, Böhm S, Badura-Lotter G, Meyer T, Petri S, Linse K, Hermann A, Semb O, Stenberg E, Nackberg S, Dorst J, Uttner I, Häggström AC, Ludolph AC, Lulé D.

J Neurol. 2018 Jul;265(7):1600-1606. doi: 10.1007/s00415-018-8861-4. Epub 2018 May 4.

PMID:
29728768
22.

C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis.

Miltenberger-Miltenyi G, Conceição VA, Gromicho M, Pronto-Laborinho AC, Pinto S, Andersen PM, de Carvalho M.

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):118-120. doi: 10.1136/jnnp-2018-318032. Epub 2018 Apr 16. No abstract available.

PMID:
29661924
23.

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12.

PMID:
29650794
24.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

25.

Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS.

Benatar M, Wuu J, Andersen PM, Atassi N, David W, Cudkowicz M, Schoenfeld D.

Neurology. 2018 Feb 13;90(7):e565-e574. doi: 10.1212/WNL.0000000000004960. Epub 2018 Jan 24.

26.

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET.

Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370.

27.

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH.

Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436.

PMID:
29315381
28.

Existential decision-making in a fatal progressive disease: how much do legal and medical frameworks matter?

Weber C, Fijalkowska B, Ciecwierska K, Lindblad A, Badura-Lotter G, Andersen PM, Kuźma-Kozakiewicz M, Ludolph AC, Lulé D, Pasierski T, Lynöe N.

BMC Palliat Care. 2017 Dec 28;16(1):80. doi: 10.1186/s12904-017-0252-6.

29.

July 2017 ENCALS statement on edaravone.

Al-Chalabi A, Andersen PM, Chandran S, Chio A, Corcia P, Couratier P, Danielsson O, de Carvalho M, Desnuelle C, Grehl T, Grosskreutz J, Holmøy T, Ingre C, Karlsborg M, Kleveland G, Koch JC, Koritnik B, KuzmaKozakiewicz M, Laaksovirta H, Ludolph A, McDermott C, Meyer T, Mitre Ropero B, Mora Pardina J, Nygren I, Petri S, Povedano Panades M, Salachas F, Shaw P, Silani V, Staaf G, Svenstrup K, Talbot K, Tysnes OB, Van Damme P, van der Kooi A, Weber M, Weydt P, Wolf J, Hardiman O, van den Berg LH.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):471-474. doi: 10.1080/21678421.2017.1369125. Epub 2017 Oct 4. Review. No abstract available.

30.

Impact of Amyotrophic Lateral Sclerosis on Slow Tonic Myofiber Composition in Human Extraocular Muscles.

Tjust AE, Danielsson A, Andersen PM, Brännström T, Pedrosa Domellöf F.

Invest Ophthalmol Vis Sci. 2017 Jul 1;58(9):3708-3715. doi: 10.1167/iovs.17-22098.

PMID:
28738414
31.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.

32.

Is all ALS genetic?

Andersen PM.

Neurology. 2017 Jul 18;89(3):220-221. doi: 10.1212/WNL.0000000000004127. Epub 2017 Jun 22. No abstract available.

PMID:
28642337
33.

Is survival improved by the use of NIV and PEG in amyotrophic lateral sclerosis (ALS)? A post-mortem study of 80 ALS patients.

Burkhardt C, Neuwirth C, Sommacal A, Andersen PM, Weber M.

PLoS One. 2017 May 23;12(5):e0177555. doi: 10.1371/journal.pone.0177555. eCollection 2017.

34.

Pyrimethamine significantly lowers cerebrospinal fluid Cu/Zn superoxide dismutase in amyotrophic lateral sclerosis patients with SOD1 mutations.

Lange DJ, Shahbazi M, Silani V, Ludolph AC, Weishaupt JH, Ajroud-Driss S, Fields KG, Remanan R, Appel SH, Morelli C, Doretti A, Maderna L, Messina S, Weiland U, Marklund SL, Andersen PM.

Ann Neurol. 2017 Jun;81(6):837-848. doi: 10.1002/ana.24950. Epub 2017 Jun 9.

35.

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.

Keskin I, Birve A, Berdynski M, Hjertkvist K, Rofougaran R, Nilsson TK, Glass JD, Marklund SL, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Aug;18(5-6):457-463. doi: 10.1080/21678421.2017.1301481. Epub 2017 Mar 21.

PMID:
28325066
36.

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.

Ohta Y, Soucy G, Phaneuf D, Audet JN, Gros-Louis F, Rouleau GA, Blasco H, Corcia P, Andersen PM, Nordin F, Yamashita T, Abe K, Julien JP.

Hum Mol Genet. 2016 Nov 1;25(21):4771-4786. doi: 10.1093/hmg/ddw304.

37.

Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.

Czell D, Sapp PC, Neuwirth C, Weber M, Andersen PM, Brown RH.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):302-304. doi: 10.1080/21678421.2017.1280509. Epub 2017 Jan 31.

PMID:
28140676
38.

Instability of C154Y variant of aldo-keto reductase 1C3.

Endo S, Takada S, Honda RP, Müller K, Weishaupt JH, Andersen PM, Ludolph AC, Kamatari YO, Matsunaga T, Kuwata K, El-Kabbani O, Ikari A.

Chem Biol Interact. 2017 Oct 1;276:194-202. doi: 10.1016/j.cbi.2016.12.018. Epub 2016 Dec 23.

PMID:
28025170
39.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

40.

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.

Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A, Nordin F, Ludolph AC, Weishaupt JH, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes OB, Benatar M, Wuu J, Lange DJ, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):256-264. doi: 10.1080/21678421.2016.1262423. Epub 2016 Dec 12.

PMID:
27936955
41.

Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Freischmidt A, Müller K, Ludolph AC, Weishaupt JH, Andersen PM.

JAMA Neurol. 2017 Jan 1;74(1):110-113. doi: 10.1001/jamaneurol.2016.3712. Review.

PMID:
27892983
42.

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J.

Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.

43.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

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