2024

Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Hecher L, Gorski-Alberts E, Begemann M, Herwig J, Lausberg E, Hillebrand G, Volk A, Kurth I, Kraft F, Kutsche K
J MED GENET. 2024;61(9):833-838.

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Hinić S, Cybulski C, Van der Post R, Vos J, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams W, Kets C, Haadsma M, Spruijt L, Wevers M, Evans D, Wimmer K, Schnaiter S, Volk A, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong M, Vaz F, Mensenkamp A, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer R
GENET MED. 2024;26(5):.

Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers
Hüper L, Steinacker P, Polyakova M, Mueller K, Godulla J, Herzig S, Danek A, Engel A, Diehl-Schmid J, Classen J, Fassbender K, Fliessbach K, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Oeckl P, Prudlo J, Saur D, Anderl-Straub S, Synofzik M, Wagner M, Wiltfang J, Winkelmann J, Volk A, , Huppertz H, Otto M, Schroeter M
ALZHEIMERS DEMENT. 2024;20(7):4461-4475.

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype
Papingi D, Bierhals T, Volk A, Kutsche M, Paul K, Herget T
AM J MED GENET A. 2024;194(5):e63515.

2023

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
Chepurwar S, von Loh S, Wigger D, Neef J, Frommolt P, Beutner D, Lang-Roth R, Kubisch C, Strenzke N, Volk A
HUM MOL GENET. 2023;32(7):1083-1089.

Relationship of serum beta-synuclein with blood biomarkers and brain atrophy
Oeckl P, Anderl-Straub S, Danek A, Diehl-Schmid J, Fassbender K, Fliessbach K, Halbgebauer S, Huppertz H, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Prudlo J, Schneider A, Schroeter M, Steinacker P, Volk A, Wagner M, Winkelmann J, Wiltfang J, Ludolph A, Otto M
ALZHEIMERS DEMENT. 2023;19(4):1358-1371.

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
Postma A, Rapp C, Knoflach K, Volk A, Lemke J, Ackermann M, Regamey N, Latzin P, Celant L, Jansen S, Bogaard H, Ilgun A, Alders M, van Spaendonck-Zwarts K, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling A, Griese M
Genetics in medicine open. 2023;1(1):100811.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz M, Ambrosone C, Apostolou P, Arun B, Auer P, Barnard M, Bertelsen B, Blok M, Boddicker N, Brunet J, Burnside E, Calvello M, Campbell I, Chan S, Chen F, Chiang J, Coppa A, Cortesi L, Crujeiras-González A, De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans D, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García E, González S, Haiman C, Hansen T, Hauke J, Hodge J, Hu C, Huang H, Ishak N, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim W, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro A, Mori L, Nathanson K, Neuhausen S, Nevanlinna H, Olson J, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson M, Rosseel T, Ruddy K, Santamariña M, Dos Santos E, Teras L, Toland A, Trentham-Dietz A, Vachon C, Volk A, Weber-Lassalle N, Weitzel J, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang Z, Zima T, Spurdle A, Vega A, Rossing M, Del Valle J, De Nicolo A, Hahnen E, Claes K, Ngeow J, , Momozawa Y, James P, Couch F, Macurek L, Kleibl Z
CLIN CANCER RES. 2023;29(16):3037-3050.

Cluster headache genome-wide association study and meta-analysis identifies eight loci and implicates smoking as causal risk factor
Winsvold B, Harder A, Ran C, Chalmer M, Dalmasso M, Ferkingstad E, Tripathi K, Bacchelli E, Børte S, Fourier C, Petersen A, Vijfhuizen L, Magnusson S, O'Connor E, Bjornsdottir G, Häppölä P, Wang Y, Callesen I, Kelderman T, Gallardo V, de Boer I, Jennysdotter Olofsgård F, Heinze K, Lund N, Thomas L, Hsu C, Pirinen M, Hautakangas H, Ribasés M, Guerzoni S, Sivakumar P, Yip J, Heinze A, Küçükali F, Ostrowski S, Pedersen O, Kristoffersen E, Martinsen A, Artigas M, Lagrata S, Cainazzo M, Adebimpe J, Quinn O, Göbel C, Cirkel A, Volk A, Heilmann-Heimbach S, Skogholt A, Gabrielsen M, Wilbrink L, Danno D, Mehta D, Guðbjartsson D, Rosendaal F, Willems van Dijk K, Fronczek R, Wagner M, Scherer M, Göbel H, Sleegers K, Sveinsson O, Pani L, Zoli M, Ramos-Quiroga J, Dardiotis E, Steinberg A, Riedel-Heller S, Sjöstrand C, Thorgeirsson T, Stefansson H, Southgate L, Trembath R, Vandrovcova J, Noordam R, Paemeleire K, Stefansson K, Fann C, Waldenlind E, Tronvik E, Jensen R, Chen S, Houlden H, Terwindt G, Kubisch C, Maestrini E, Vikelis M, Pozo-Rosich P, Belin A, Matharu M, van den Maagdenberg A, Hansen T, Ramirez A, Zwart J
ANN NEUROL. 2023;94(4):713-726.

2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng B, Dubois S, Collin-Deschesnes A, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank M, Allen J, Altmüller J, Arnold N, Ausems M, Berutti R, Bolla M, Bull S, Carvalho S, Cornelissen S, Dufault M, Dunning A, Engel C, Gehrig A, Geurts-Giele W, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst F, Hollestelle A, Hooning M, Horváth J, Ikram M, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens J, Niederacher D, Nürnberg P, Ott C, Peters A, Pharoah P, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom T, Sutter C, Thiele H, van Asperen C, van der Kolk L, van der Luijt R, Volk A, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber B, Genome Of The Netherlands Project , Ghs Study Group , Devilee P, Tavtigian S, Bader G, Meindl A, Goldgar D, Andrulis I, Schmutzler R, Easton D, Schmidt M, Hahnen E, Simard J
CANCERS. 2022;14(14):.

Predictive genetic testing for Motor neuron disease: time for a guideline?
McNeill A, Amador M, Bekker H, Clarke A, Crook A, Cummings C, McEwen A, McDermott C, Quarrell O, Renieri A, Roggenbuck J, Salmon K, Volk A, Weishaupt J
EUR J HUM GENET. 2022;30(6):635-636.

Serum GFAP differentiates Alzheimer's disease from frontotemporal dementia and predicts MCI-to-dementia conversion
Oeckl P, Anderl-Straub S, Von Arnim C, Baldeiras I, Diehl-Schmid J, Grimmer T, Halbgebauer S, Kort A, Lima M, Marques T, Ortner M, Santana I, Steinacker P, Verbeek M, Volk A, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2022;93:659-667.

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy - Addendum
Prondzynski M, Lemoine M, Zech A, Horváth A, Di Mauro V, Koivumäki J, Kresin N, Busch J, Krause T, Krämer E, Schlossarek S, Spohn M, Friedrich F, Münch J, Laufer S, Redwood C, Volk A, Hansen A, Mearini G, Catalucci D, Meyer C, Christ T, Patten M, Eschenhagen T, Carrier L
EMBO MOL MED. 2022;14(8):.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
Rosenbohm A, Pott H, Thomsen M, Rafehi H, Kaya S, Szymczak S, Volk A, Mueller K, Silveira I, Weishaupt J, Tönnies H, Seibler P, Zschiedrich K, Schaake S, Westenberger A, Zühlke C, Depienne C, Trinh J, Ludolph A, Klein C, Bahlo M, Lohmann K
MOVEMENT DISORD. 2022;37(12):2427-2439.

2021

Predicting disease progression in behavioral variant frontotemporal dementia
Anderl-Straub S, Lausser L, Lombardi J, Uttner I, Fassbender K, Fliessbach K, Huppertz H, Jahn H, Kornhuber J, Obrig H, Schneider A, Semler E, Synofzik M, Danek A, Prudlo J, Kassubek J, Landwehrmeyer B, Lauer M, Volk A, Wiltfang J, Diehl-Schmid J, Ludolph A, Schroeter M, Kestler H, Otto M
ALZH DEMENT-DADM. 2021;13(1):e12262.

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
Blomen C, Pott A, Volk A, Budäus L, Witzel I
SCI REP-UK. 2021;11(1):20178.

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers
Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante A, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber B, Sutter C, Volk A, Giannakopoulou O, Lee A, Engel C, Schmidt M, Antoniou A, Schmutzler R, Kuchenbaecker K, Hahnen E
JNCI-J NATL CANCER I. 2021;113(7):893-899.

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
Jandl N, Schmidt T, Rolvien T, Stürznickel J, Chrysostomou K, von Vopelius E, Volk A, Schinke T, Kubisch C, Amling M, Barvencik F
CALCIFIED TISSUE INT. 2021;108(3):288-301.

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth K, Neu A, Rau I, Hülsemann W, Kutsche K, Volk A
EUR J MED GENET. 2021;64(3):.

Quantifying progression in primary progressive aphasia with structural neuroimaging
Lombardi J, Mayer B, Semler E, Anderl-Straub S, Uttner I, Kassubek J, Diehl-Schmid J, Danek A, Levin J, Fassbender K, Fliessbach K, Schneider A, Huppertz H, Jahn H, Volk A, Kornhuber J, Landwehrmeyer B, Lauer M, Prudlo J, Wiltfang J, Schroeter M, Ludolph A, Otto M
ALZHEIMERS DEMENT. 2021;17(10):1595-1609.

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome
Schoof M, Kordes U, Volk A, Al-Kershi S, Kresbach C, Schüller U
ACTA NEUROPATHOL. 2021;142(3):591-593.

Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study
Steinacker P, Feneberg E, Halbgebauer S, Witzel S, Verde F, Oeckl P, Van Damme P, Gaur N, Gray E, Grosskreutz J, Jardel C, Kachanov M, Kuhle J, Lamari F, Maceski A, Del Mar Amador M, Mayer B, Morelli C, Petri S, Poesen K, Raaphorst J, Salachas F, Silani V, Turner M, Verbeek M, Volk A, Weishaupt J, Weydt P, Ludolph A, Otto M
AMYOTROPH LAT SCL FR. 2021;22(3-4):276-286.

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
Volk A, Hedergott A, Preising M, Rading S, Fricke J, Herkenrath P, Nürnberg P, Altmüller J, von Ameln S, Lorenz B, Neugebauer A, Karsak M, Kubisch C
HUM GENET. 2021;140(8):1157-1168.

Clinico-genetic findings in 509 frontotemporal dementia patients
Wagner M, Lorenz G, Volk A, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze K, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter M, Uttner I, Vukovich R, Wiltfang J, Winkler A, Zhou Q, Ludolph A, , Oexle K, Otto M, Diehl-Schmid J, Winkelmann J
MOL PSYCHIATR. 2021;26(10):5824-5832.

2020

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
Barschke P, Öckl P, Steinacker P, Al Shweiki M, Weishaupt J, Landwehrmeyer G, Anderl-Straub S, Weydt P, Diehl-Schmid J, Danek A, Kornhuber J, Schroeter M, Prudlo J, Jahn H, Fassbender K, Lauer M, van der Ende E, van Swieten J, Volk A, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2020;91(5):503-511.

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
Moore K, Nicholas J, Grossman M, McMillan C, Irwin D, Massimo L, Van Deerlin V, Warren J, Fox N, Rossor M, Mead S, Bocchetta M, Boeve B, Knopman D, Graff-Radford N, Forsberg L, Rademakers R, Wszolek Z, van Swieten J, Jiskoot L, Meeter L, Dopper E, Papma J, Snowden J, Saxon J, Jones M, Pickering-Brown S, Le Ber I, Camuzat A, Brice A, Caroppo P, Ghidoni R, Pievani M, Benussi L, Binetti G, Dickerson B, Lucente D, Krivensky S, Graff C, Öijerstedt L, Fallström M, Thonberg H, Ghoshal N, Morris J, Borroni B, Benussi A, Padovani A, Galimberti D, Scarpini E, Fumagalli G, Mackenzie I, Hsiung G, Sengdy P, Boxer A, Rosen H, Taylor J, Synofzik M, Wilke C, Sulzer P, Hodges J, Halliday G, Kwok J, Sanchez-Valle R, Lladó A, Borrego-Ecija S, Santana I, Almeida M, Tábuas-Pereira M, Moreno F, Barandiaran M, Indakoetxea B, Levin J, Danek A, Rowe J, Cope T, Otto M, Anderl-Straub S, de Mendonça A, Maruta C, Masellis M, Black S, Couratier P, Lautrette G, Huey E, Sorbi S, Nacmias B, Laforce R, Tremblay M, Vandenberghe R, Damme P, Rogalski E, Weintraub S, Gerhard A, Onyike C, Ducharme S, Papageorgiou S, Lyn A, Brodtmann A, Finger E, Guerreiro R, Bras J, Rohrer J
LANCET NEUROL. 2020;19(2):145-156.

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family
Niemeyer E, Mofid H, Zornig C, Burandt E, Stein A, Block A, Volk A
BMC GASTROENTEROL. 2020;20(1):129.

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
Yilmaz R, Müller K, Brenner D, Volk A, Borck G, Hermann A, Meitinger T, Strom T, Danzer K, Ludolph A, Andersen P, Weishaupt J
NEUROBIOL AGING. 2020;87:139.e9-139.e15.

2019

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen P, Nordström U, Tsiakas K, Johannsen J, Volk A, Bierhals T, Zetterström P, Marklund S, Hempel M, Santer R
NEW ENGL J MED. 2019;381(5):486-488.

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 K, 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 A, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer K, Freischmidt A, Meitinger T, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2019;142(12):e67.

FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations
Diehl-Schmid J, Licata A, Goldhardt O, Förstl H, Yakushew I, Otto M, Anderl-Straub S, Beer A, Ludolph A, Landwehrmeyer G, Levin J, Danek A, Fliessbach K, Spottke A, Fassbender K, Lyros E, Prudlo J, Krause B, Volk A, Edbauer D, Schroeter M, Drzezga A, Kornhuber J, Lauer M, , Grimmer T
TRANSL PSYCHIAT. 2019;9(1):54.

Hypophosphatasie - eine klinisch und genetisch variable Erkrankung
Jandl N, Volk A, Barvencik F
MED GENET-BERLIN. 2019;2019(31):364-371.

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 A, Diehl-Schmid J, Andersen P, Kornhuber J, Danek A, Fassbender K, Fliessbach K, Jahn H, Lauer M, Müller K, Knehr A, Prudlo J, Schneider A, Thal D, Yilmazer-Hanke D, Weishaupt J, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2019;90(1):4-10.

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Prondzynski M, Lemoine M, Zech A, Horvath A, Di Mauro V, Koivumäki J, Kresin N, Busch J, Krause T, Krämer E, Schlossarek S, Spohn M, Friedrich F, Münch J, Laufer S, Redwood C, Volk A, Hansen A, Mearini G, Catalucci D, Meyer C, Christ T, Patten M, Eschenhagen T, Carrier L
EMBO MOL MED. 2019;11(12):.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
Verde F, Steinacker P, Weishaupt J, Kassubek J, Oeckl P, Halbgebauer S, Tumani H, von Arnim C, Dorst J, Feneberg E, Mayer B, Müller H, Gorges M, Rosenbohm A, Volk A, Silani V, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2019;90(2):157-164.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul V, Honisch E, Klaschik K, Volk A, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler R, Hahnen E, Hauke J
BREAST CANCER RES. 2019;21(1):55.

2018

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 K, 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 A, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer K, Freischmidt A, Meitinger T, Strom T, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2018;141(3):688-697.

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls
Denk J, Oberhauser F, Kornhuber J, Wiltfang J, Fassbender K, Schroeter M, Volk A, Diehl-Schmid J, Prudlo J, Danek A, Landwehrmeyer B, Lauer M, Otto M, Jahn H
PLOS ONE. 2018;13(5):e0197329.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber B, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk A, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler R, Hahnen E
CANCER MED-US. 2018;7(4):1349-1358.

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 A, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys K, Schrank B, Sperfeld A, Hübers A, Otto M, Dorst J, Meitinger T, Strom T, Andersen P, Ludolph A, Weishaupt J
J NEUROL NEUROSUR PS. 2018;89(8):817-827.

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Rosenbohm A, Hirsch S, Volk A, Grehl T, Grosskreutz J, Hanisch F, Herrmann A, Kollewe K, Kress W, Meyer T, Petri S, Prudlo J, Wessig C, Müller H, Dreyhaupt J, Weishaupt J, Kubisch C, Kassubek J, Weydt P, Ludolph A
J NEUROL. 2018;265(5):1026-1036.

Atrophy in the Thalamus But Not Cerebellum Is Specific forFTD and ALS Patients - An Atlas-Based Volumetric MRI Study
Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J, Huppertz H, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter M, Volk A, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J
FRONT AGING NEUROSCI. 2018;10:45.

Serum neurofilament light chain in behavioral variant frontotemporal dementia
Steinacker P, Anderl-Straub S, Diehl-Schmid J, Semler E, Uttner I, von Arnim C, Barthel H, Danek A, Fassbender K, Fliessbach K, Foerstl H, Grimmer T, Huppertz H, Jahn H, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Maler J, Mayer B, Oeckl P, Prudlo J, Schneider A, Volk A, Wiltfang J, Schroeter M, Ludolph A, Otto M
NEUROLOGY. 2018;91(15):E1390-E1401.

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
Volk A, Weishaupt J, Andersen P, Ludolph A, Kubisch C
MED GENET-BERLIN. 2018;30(2):252-258.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert A, Müller C, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk A, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler R, Hahnen E
BREAST CANCER RES. 2018;20(1):7.

2017

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk A, Kubisch C, Heller R
HUM MOL GENET. 2017;26(20):4055-4066.

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance
Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk A
AUDIOL NEURO-OTOL. 2017;22(1):30-40.

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
Lehmer C, Oeckl P, Weishaupt J, Volk A, Diehl-Schmid J, Schroeter M, Lauer M, Kornhuber J, Levin J, Fassbender K, Landwehrmeyer B, Schludi M, Arzberger T, Kremmer E, Flatley A, Feederle R, Steinacker P, Weydt P, Ludolph A, Edbauer D, Otto M
EMBO MOL MED. 2017;9(7):859-868.

Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias
Steinacker P, Semler E, Anderl-Straub S, Diehl-Schmid J, Schroeter M, Uttner I, Foerstl H, Landwehrmeyer B, von Arnim C, Kassubek J, Oeckl P, Huppertz H, Fassbender K, Fliessbach K, Prudlo J, Roßmeier C, Kornhuber J, Schneider A, Volk A, Lauer M, Danek A, Ludolph A, Otto M
NEUROLOGY. 2017;88(10):961-969.

The role of de novo mutations in the development of amyotrophic lateral sclerosis
van Doormaal P, Ticozzi N, Weishaupt J, Kenna K, Diekstra F, Verde F, Andersen P, Dekker A, Tiloca C, Marroquin N, Overste D, Pensato V, Nürnberg P, Pulit S, Schellevis R, Calini D, Altmüller J, Francioli L, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph A, van den Berg L, Kubisch C, Landers J, Veldink J, Silani V, Volk A
HUM MUTAT. 2017;38(11):1534-1541.

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
Volk A, Kubisch C
CURR OPIN NEUROL. 2017;30(5):523-528.

2016

NEK1 mutations in familial amyotrophic lateral sclerosis
Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer K, Volk A, Meitinger T, Strom T, Otto M, Kassubek J, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2016;139(Pt 5):e28.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
Daud S, Kakar N, Goebel I, Hashmi A, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl D, Wasim M, Volk A, Kubisch C, Ahmad J, Borck G
AMYOTROPH LAT SCL FR. 2016;17(3-4):260-265.

Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD
Feneberg E, Steinacker P, Volk A, Weishaupt J, Wollmer M, Boxer A, Tumani H, Ludolph A, Otto M
J NEURAL TRANSM. 2016;123(3):289-96.

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients
Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen P, von Arnim C, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller H, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk A, Weydt P, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2016;87(1):12-20.

Neurofilaments levels as biomarkers in asymptomatic and symptomatic familial ALS
Weydt P, Oeckl P, Huss A, Müller K, Volk A, Kuhle J, Knehr A, Andersen P, Prudlo J, Steinacker P, Weishaupt J, Ludolph A, Otto M
ANN NEUROL. 2016;79(1):152-8.

2015

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani M, Dorst J, Graf E, Nordström U, Feiler M, Putz S, Boeckers T, Meyer T, Winkler A, Winkelman J, de Carvalho M, Thal D, Otto M, Brännström T, Volk A, Kursula P, Danzer K, Lichtner P, Dikic I, Meitinger T, Ludolph A, Strom T, Andersen P, Weishaupt J
NAT NEUROSCI. 2015;18(5):631-636.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis
Hedergott A, Volk A, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A
GRAEF ARCH CLIN EXP. 2015;253(12):2239-2246.

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel , Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt J, Kubisch C, Ludolph A, Volk A
NEUROBIOL AGING. 2015;36(11):Art. 3117.e1.

2014

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Akimoto C, Volk A, van Blitterswijk M, Van den Broeck M, Leblond C, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky D, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers J, Veldink J, Silani V, Gitler A, Shaw C, Rouleau G, van den Berg L, Van Broeckhoven C, Rademakers R, Andersen P, Kubisch C
J MED GENET. 2014;51(6):419-24.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph A, Volk A
J NEUROL SCI. 2014;347(1-2):352-5.

Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers
Freischmidt A, Müller K, Zondler L, Weydt P, Volk A, Božič A, Walter M, Bonin M, Mayer B, von Arnim C, Otto M, Dieterich C, Holzmann K, Andersen P, Ludolph A, Danzer K, Weishaupt J
BRAIN. 2014;137(11):2938-50.

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Högel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph A, Kubisch C, Weishaupt J, Volk A
NEUROBIOL AGING. 2014;35(5):1214.e1-6.

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
Müller K, Andersen P, Hübers A, Marroquin N, Volk A, Danzer K, Meitinger T, Ludolph A, Strom T, Weishaupt J
BRAIN. 2014;137(Pt 12):e309.

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?
Rosenbohm A, Kassubek J, Weydt P, Marroquin N, Volk A, Kubisch C, Huppertz H, Weber M, Andersen P, Weishaupt J, Ludolph A
J NEUROL. 2014;261(2):283-90.

2013

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
Dobson-Stone C, Hallupp M, Loy C, Thompson E, Haan E, Sue C, Panegyres P, Razquin C, Seijo-Martínez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk A, Brooks W, Schofield P, Pastor P, Kwok J
PLOS ONE. 2013;8(2):e56899.

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
Ingre C, Landers J, Rizik N, Volk A, Akimoto C, Birve A, Hübers A, Keagle P, Piotrowska K, Press R, Andersen P, Ludolph A, Weishaupt J
NEUROBIOL AGING. 2013;34(6):1708.e1-6.

A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation
Volk A, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D
AUDIOL NEURO-OTOL. 2013;18(3):192-9.

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk A, Weishaupt J, Meyer T, Müller U, Andersen P, Ludolph A
EUR J NEUROL. 2013;20(3):540-6.

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany
Weishaupt J, Waibel S, Birve A, Volk A, Mayer B, Meyer T, Ludolph A, Andersen P
NEUROBIOL AGING. 2013;34(5):1516.e9-15.

2012

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Borck G, Rainshtein L, Hellman-Aharony S, Volk A, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L
CLIN GENET. 2012;82(3):271-276.

Are Dopa-responsive dystonia and Parkinson's disease related disorders?: A case report
Eggers C, Volk A, Kahraman D, Fink G, Leube B, Schmidt M, Timmermann L
PARKINSONISM RELAT D. 2012;18(5):666-8.

Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
Schmitt I, Wüllner U, Rooyen v, Pierre J, Khazneh H, Becker J, Volk A, Kubisch C, Becker T, Kostic V, Klein C, Ramirez A
EUR J HUM GENET. 2012;20(12):1265-1269.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford M, Smith G, Li Y, Pogoda H, Nürnberg G, Stiller B, Volk A, Borck G, Hong J, Goodyear R, Abidi O, Nürnberg P, Hofmann K, Richardson G, Hammerschmidt M, Moser T, Wollnik B, Koehler C, Teitell M, Barakat A, Kubisch C
AM J HUM GENET. 2012;91(5):919-927.

Letzte Aktualisierung aus dem FIS: 28.11.2024 - 03:43 Uhr