Priv.-Doz. Dr. med.
Alexander Volk
  • Facharzt für Humangenetik
  • 1.Arbeitsbereich
Sprachen
Deutsch (Muttersprache)
Englisch

Fachgebiete

Tätigkeitsschwerpunkte

Publikationen

2019

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

BRAIN. 2019 [Epub ahead of print].

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.

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.

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: 13.11.2019 - 00:36 Uhr