A. Volk

发表

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature

P. Nürnberg, J. Altmüller, C. Kubisch, 2015, Graefe's Archive for Clinical and Experimental Ophthalmology.

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

P. Andersen, A. Birve, Jochen H Weishaupt, 2013, Neurobiology of Aging.

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

P. Andersen, A. Ludolph, Jochen H Weishaupt, 2018, medizinische genetik.

NEK1 mutations in familial amyotrophic lateral sclerosis.

T. Wieland, T. Meitinger, T. Strom, 2016, Brain : a journal of neurology.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients

P. Andersen, D. Lulé, J. Kassubek, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias

K. Fliessbach, Hans Förstl, H. Huppertz, 2017, Neurology.

Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

E. Kremmer, J. Kornhuber, B. Landwehrmeyer, 2017, EMBO molecular medicine.

Serum neurofilament light chain in behavioral variant frontotemporal dementia

K. Fliessbach, Hans Förstl, H. Huppertz, 2018, Neurology.

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases.

C. Kubisch, A. Volk, 2017, Current opinion in neurology.

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.

K. Kutsche, A. Volk, K. Kloth, 2021, European journal of medical genetics.

Clinico-genetic findings in 509 frontotemporal dementia patients

K. Fliessbach, H. Obrig, A. Winkler, 2021, Molecular Psychiatry.

A TUBB6 mutation is associated with autosomal dominant non‐progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

R. Lang-Roth, R. Heller, G. Nürnberg, 2017, Human molecular genetics.

FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations

A. Spottke, K. Fliessbach, A. Drzezga, 2019, Translational Psychiatry.

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

J. Landers, Jochen H Weishaupt, C. Ingre, 2013, Neurobiology of Aging.

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls

A. Danek, J. Kornhuber, J. Wiltfang, 2018, PloS one.

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

Gary D Bader, C. Gieger, W. Maier, 2022, Cancers.

Predictive genetic testing for Motor neuron disease: time for a guideline?

M. Amador, A. Clarke, A. McEwen, 2022, European Journal of Human Genetics.

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis

J. Kassubek, A. Ludolph, H. Müller, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.

G. Fink, L. Timmermann, C. Eggers, 2012, Parkinsonism & related disorders.

Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD

A. Boxer, A. Ludolph, Jochen H Weishaupt, 2016, Journal of Neural Transmission.

A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation

R. Lang-Roth, D. Beutner, C. Kubisch, 2013, Audiology and Neurotology.

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

U. Schüller, A. Volk, Catena Kresbach, 2021, Acta Neuropathologica.

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

A. Ludolph, J. Högel, J. Dorst, 2014, Neurobiology of Aging.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

S. Szymczak, K. Lohmann, C. Depienne, 2022, Movement disorders : official journal of the Movement Disorder Society.

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

A. Ludolph, J. Högel, P. Nürnberg, 2015, Neurobiology of Aging.

Truncating mutations in FUS/TLS give rise to a more aggressive ALS‐phenotype than missense mutations: a clinico‐genetic study in Germany

P. Andersen, A. Birve, A. Ludolph, 2013, European journal of neurology.

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

E. Haan, P. Schofield, W. Brooks, 2013, PloS one.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

G. Nürnberg, P. Nürnberg, C. Kubisch, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

B. Wollnik, C. Kubisch, G. Borck, 2010, Human Genetics.

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

K. Fliessbach, A. Danek, J. Kornhuber, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

Jussi T. Koivumäki, D. Catalucci, M. Spohn, 2019, EMBO molecular medicine.

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

T. Meitinger, T. Strom, P. Andersen, 2014, Brain : a journal of neurology.

Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy

K. Fliessbach, H. Huppertz, A. Danek, 2022, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Serum GFAP differentiates Alzheimer’s disease from frontotemporal dementia and predicts MCI-to-dementia conversion

J. Diehl-Schmid, M. Verbeek, A. Ludolph, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

R. Lang-Roth, G. Nürnberg, P. Nürnberg, 2017, Audiology and Neurotology.

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

H. Braak, T. Meitinger, P. Andersen, 2019, Brain : a journal of neurology.

Hot-spot KIF5A mutations cause familial ALS

H. Braak, T. Meitinger, T. Strom, 2018, Brain : a journal of neurology.

Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

B. Lorenz, P. Nürnberg, J. Altmüller, 2021, Human Genetics.

Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

M. Amling, C. Kubisch, N. -. Jandl, 2020, Calcified Tissue International.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

J. Ramser, A. Meindl, R. Schmutzler, 2018, Breast Cancer Research.

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

Annelot M. Dekker, Raymond D. Schellevis, S. Pulit, 2017, Human mutation.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

T. Wieland, T. Meitinger, T. Strom, 2015, Nature Neuroscience.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

M. Teitell, R. Goodyear, G. Richardson, 2012, American journal of human genetics.

Variants in the 3′UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression

T. Becker, A. Ramírez, V. Kostic, 2012, European Journal of Human Genetics.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

A. Ludolph, C. Kubisch, K. Friedrich, 2014, Journal of the Neurological Sciences.

Comprehensive analysis of the mutation spectrum in 301 German ALS families

S. Klebe, T. Meitinger, T. Strom, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

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

Nina Ditsch, Peter Nürnberg, Dieter Niederacher, 2018, Cancer medicine.

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

E. Burandt, C. Zornig, A. Volk, 2020, BMC Gastroenterology.

BRAIN LETTER TO THE EDITOR Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

Two novel mutations in conserved codons indicate that CHCHD 10 is a gene associated with motor neuron disease

T. Meitinger, T. Strom, P. Andersen, 2014 .

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients – An Atlas-Based Volumetric MRI Study

K. Fliessbach, H. Huppertz, A. Danek, 2018, Front. Aging Neurosci..

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers.

A. Antoniou, A. Rump, M. Schmidt, 2020, Journal of the National Cancer Institute.

Horizontal gaze palsy with progressive scoliosis: Three novel ROBO3 mutations and descriptions of the phenotypes of four patients

P. Eysel, C. Kubisch, G. Borck, 2011, Molecular vision.

Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.

C. Dieterich, P. Andersen, A. Ludolph, 2014, Brain : a journal of neurology.

Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis

P. Andersen, A. Ludolph, J. Kuhle, 2015, Annals of neurology.

Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study

F. Salachas, M. Amador, F. Lamari, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?

H. Huppertz, P. Andersen, J. Kassubek, 2014, Journal of Neurology.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

C. van Broeckhoven, C. Shaw, P. Andersen, 2014, Journal of Medical Genetics.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

P. Andersen, S. Marklund, M. Hempel, 2019, The New England journal of medicine.

Quantifying progression in primary progressive aphasia with structural neuroimaging

K. Fliessbach, H. Huppertz, A. Danek, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

A. Danek, J. Kornhuber, M. Schroeter, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

C. Wessig, J. Dreyhaupt, S. Petri, 2018, Journal of Neurology.

Predicting disease progression in behavioral variant frontotemporal dementia

H. Kestler, K. Fliessbach, H. Obrig, 2021, Alzheimer's & dementia.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

A. Meindl, R. Schmutzler, Jan Hauke, 2019, Breast Cancer Research.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

D. Mitter, D. Wieczorek, R. Abou Jamra, 2019, Genetics in Medicine.

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders

C. Kubisch, A. Volk, J. Fricke, 2010, Graefe's Archive for Clinical and Experimental Ophthalmology.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

Multimodal and Longitudinal Bioimaging Methods for Characterizing the Progressive Course of Dementia

K. Fliessbach, B. Landwehrmeyer, M. Schroeter, 2019, Frontiers Research Topics.

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Lars Budäus, Chiara Lena Blomen, Aliaksandra Pott, 2021, Scientific Reports.

Germline loss-of-function variants in the BARD1 gene are associated with familial breast cancer

E. Hahnen, C. Kubisch, P. Kozłowski, 2018, Senologie - Zeitschrift für Mammadiagnostik und -therapie.

Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.

C. Dieterich, P. Andersen, A. Ludolph, 2014, Brain : a journal of neurology.

Cluster Headache Genomewide Association Study and Meta‐Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor

Laurent F. Thomas, M. Pirinen, H. Stefánsson, 2023, Annals of neurology.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

M. Teitell, R. Goodyear, G. Richardson, 2012, American journal of human genetics.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

A. Ludolph, C. Kubisch, K. Friedrich, 2014, Journal of the Neurological Sciences.

Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers.

H. Huppertz, M. Synofzik, P. Steinacker, 2024, Alzheimer's & Dementia.