M. Auer-Grumbach

T. Wieland, T. Strom, I. Kurth, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies

V. Timmerman, M. Villanova, E. Nelis, 2001 .

SPG10 is a rare cause of spastic paraplegia in European families

R. Schüle, L. Schöls, J. Kassubek, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020

S. Rudnik-Schöneborn, J. Senderek, M. Auer-Grumbach, 2020, Medizinische Genetik.

Hereditary Neuropathies: Update 2017

S. Rudnik-Schöneborn, J. Senderek, M. Auer-Grumbach, 2017, Neuropediatrics.

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

F. Zimprich, W. Löscher, C. Beetz, 2020, Journal of clinical medicine.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Y. Parman, E. Battaloğlu, Byung-Ok Choi, 2019, neurogenetics.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

H. Hartung, D. Fitzpatrick, N. Verpoorten, 2003, American journal of human genetics.

Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Andreas C. Themistocleous, I. Katona, T. Wieland, 2015, Nature Genetics.

Multi-system neurological disease is common in patients with OPA1 mutations

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes

C. Windpassinger, E. Petek, K. Wagner, 2003, Human Genetics.

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene

M. Patton, T. Warner, A. Crosby, 2003, Human mutation.

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease

B. Asselbergh, C. Bagni, V. Timmerman, 2017, Acta neuropathologica communications.

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

H. Budka, T. Pieber, M. Weger, 2011, Brain : a journal of neurology.

Recent advances in hereditary sensory and autonomic neuropathies

T. Pieber, K. Verhoeven, V. Timmerman, 2006, Current opinion in neurology.

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

S. Brahmbhatt, G. Nicholson, M. Auer-Grumbach, 2001, Nature Genetics.

Phenotype–genotype correlations in a CMT2B family with refined 3q13-q22 locus

K. Verhoeven, V. Timmerman, P. de Jonghe, 2000, Neurology.

Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands

H. Hartung, G. Ladurner, E. Trinka, 2000, Journal of Neurology.

Diabetic neuropathy increases stimulation threshold during popliteal sciatic nerve block†

G. Gemes, M. Auer-Grumbach, F. Quehenberger, 2016, British journal of anaesthesia.

Molecular genetics of hereditary sensory neuropathies

T. Pieber, M. Auer-Grumbach, P. Auer‐Grumbach, 2007, NeuroMolecular Medicine.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

B. Ceulemans, Y. Parman, E. Battaloğlu, 2011, Brain : a journal of neurology.

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

C. Blackstone, T. Strom, J. Zidar, 2011, American journal of human genetics.

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

T. Wieland, T. Strom, V. Timmerman, 2014, Journal of Neurology.

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

T. Pieber, W. Löscher, J. Senderek, 2011, Journal of Neurology.

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

W. Löscher, G. Utermann, A. Janecke, 2009, European Journal of Human Genetics.

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

J. Finsterer, G. Stevanin, W. Löscher, 2012, Journal of the Neurological Sciences.

TRPV4 mutations in children with congenital distal spinal muscular atrophy

C. Bruno, F. Santorelli, R. Biancheri, 2012, neurogenetics.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

D. MacArthur, M. Hurles, T. Strom, 2013, American journal of human genetics.

Inverted formin 2‐related Charcot‐Marie‐Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

S. Züchner, J. Weis, H. Fehrenbach, 2015, Journal of the peripheral nervous system : JPNS.

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

B. Asselbergh, K. Janssens, V. Timmerman, 2014, Neurobiology of Disease.

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.

B. Schlotter-Weigel, W. Löscher, A. Hotz-Wagenblatt, 2019, Immunity.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

T. Hornemann, Anke Penno, B. Asselbergh, 2011, Human mutation.

Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci

H. Hartung, V. Timmerman, P. de Jonghe, 2000, Neurology.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

P. D. Rijk, S. Züchner, Y. Parman, 2012, Nature Genetics.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

C. Beetz, Rita-Eva Varga, Rizwan Mumtaz, 2012, Analytical biochemistry.

Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

C. Beetz, J. Mascherbauer, R. Windhager, 2018, Molecular and cellular probes.

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

P. Bergh, N. Verpoorten, V. Timmerman, 2004, Nature Genetics.

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

S. Züchner, A. Kochański, P. Latour, 2020, European journal of neurology.

Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement

A. Mayr, P. Rainer, M. Hacker, 2020, Wiener klinische Wochenschrift.

Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging

G. Dorffner, M. Samwald, J. Mascherbauer, 2021, Journal of personalized medicine.

HSJ1-related hereditary neuropathies

T. Strom, S. Rudnik-Schöneborn, A. Schirmacher, 2014, Neurology.

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

J. Holton, Michael A. Gonzalez, H. Houlden, 2016, American journal of human genetics.

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

S. Klebe, R. Schüle, L. Schöls, 2009, neurogenetics.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

O. Witte, R. Schüle, L. Schöls, 2006, Neurology.

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

M. Pericak-Vance, A. Ashley-Koch, M. Hutchinson, 2007, Human mutation.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

B. Asselbergh, V. Timmerman, J. Timmermans, 2019, Autophagy.

Mutations in BICD 2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

D. MacArthur, M. Hurles, T. Strom, 2013 .

A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes

Matt Wenham, T. Daniele, M. Schintler, 2011, Traffic.

Early-onset CMT1B due to the MPZ mutation c.320A>T associated with collateral inclusion body myopathy and Deafness

J. Finsterer, C. Haberler, M. Auer-Grumbach, 2013 .

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Motor neuron, nerve, and neuromuscular junction disease.

J. Finsterer, M. Auer-Grumbach, L. Papić, 2011, Current opinion in neurology.

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

H. Hartung, V. Timmerman, B. Plecko, 2002, Brain : a journal of neurology.

MORC2 mutations cause axonal Charcot–Marie–Tooth disease with pyramidal signs

A. Pestronk, S. Zuchner, A. Connolly, 2016, Annals of neurology.

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

N. Hamajima, C. Mache, B. Lohkamp, 2013, Pediatric Nephrology.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

S. Rudnik-Schöneborn, W. Löscher, P. Andersen, 2022, Journal of Medical Genetics.

ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable

M. Maurer, A. Dispenzieri, N. Fine, 2021, Orphanet Journal of Rare Diseases.

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

M. Speicher, T. Pieber, V. Timmerman, 2008, Neuropediatrics.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

S. Züchner, P. Bauer, R. Schüle, 2019, Brain : a journal of neurology.

G.P.17.01 A novel slow-skeletal myosin (MYH7) mutation in a large Austrian family presenting as late onset distal myopathy

N. Laing, M. Auer-Grumbach, M. Speicher, 2007, Neuromuscular Disorders.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

[Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation].

F. Fazekas, H. Hartung, W. Löscher, 1999, Der Nervenarzt.

Reduction in 99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy

C. Loewe, M. Hacker, D. Beitzke, 2023, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci

M. Auer-Grumbach, P. D. Jonghe, Vincent Timmerman, 2000, Neurology.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

TRPV4 mutations in children with congenital distal spinal muscular atrophy

C. Bruno, F. Santorelli, R. Biancheri, 2012, neurogenetics.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, W. Löscher, 2010, American journal of human genetics.

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

T. Wieland, T. Strom, D. Fischer, 2014, Brain : a journal of neurology.

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

B. Asselbergh, K. Janssens, V. Timmerman, 2014, Neurobiology of Disease.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Y. Parman, E. Battaloğlu, Byung-Ok Choi, 2019, neurogenetics.