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  1. Article: DFP E LEARNING. Hereditäre Transthyretin-Amyloidose

    Auer-Grumbach, Michaela

    Arzt & Praxis

    2022  Volume 76, Issue 3, Page(s) 23

    Language German
    Document type Article
    ZDB-ID 1224197-0
    ISSN 0048-5128
    Database Current Contents Medicine

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  2. Book: Neurologie - Innere Medizin interdisziplinär

    Auer-Grumbach, Michaela / Berlit, Peter

    Erkrankungen an der Schnittstelle zwischen Neurologie und Innerer Medizin ; 104 Tabellen

    2004  

    Author's details [Hrsg. von] Peter Berlit ... Mit Beitr. von M. Auer-Grumbach
    Keywords Innere Krankheit ; Nervensystem ; Krankheit
    Subject Erkrankung ; Krankheitszustand ; Krankheiten ; Morbus ; Nosos ; Pathos ; Systema nervosum ; NS ; Innere Erkrankung
    Language German
    Size XIV, 281 S. : Ill., graph. Darst.
    Publisher Thieme
    Publishing place Stuttgart u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT013898695
    ISBN 3-13-126121-8 ; 978-3-13-126121-2
    Database Catalogue ZB MED Medicine, Health

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    2004 A 692 order for loan Magazin
    2004 A 8041 order for loan Magazin

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  3. Article: Charcot-Marie-Tooth disease and hereditary motor neuropathies - Update 2020

    Rudnik-Schöneborn, Sabine / Auer-Grumbach, Michaela / Senderek, Jan

    Medizinische Genetik

    2020  Volume 32, Issue 3, Page(s) 207

    Language German
    Document type Article
    ZDB-ID 1083376-6
    ISSN 0936-5931
    Database Current Contents Medicine

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  4. Article: Hereditary sensory and autonomic neuropathies.

    Auer-Grumbach, Michaela

    Handbook of clinical neurology

    2013  Volume 115, Page(s) 893–906

    Abstract: Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent ... ...

    Abstract Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor disturbances. Autosomal dominant and autosomal recessive inheritance has been reported. Molecular genetics studies have identified disease-causing mutations in 11 genes. Some of the affected proteins have nerve-specific roles but underlying mechanisms have also been shown to involve sphingolipid metabolism, vesicular transport, structural integrity, and transcription regulation. Genetic and functional studies have substantially improved the understanding of the pathogenesis of the HSN/HSAN and will help to find preventive and causative therapies in the future.
    MeSH term(s) Hereditary Sensory and Autonomic Neuropathies/classification ; Hereditary Sensory and Autonomic Neuropathies/genetics ; Hereditary Sensory and Autonomic Neuropathies/physiopathology ; Humans ; Membrane Proteins/genetics ; Methyltransferases/genetics ; Multigene Family/genetics ; Mutation/genetics ; Receptor, trkA/genetics
    Chemical Substances Membrane Proteins ; Methyltransferases (EC 2.1.1.-) ; Receptor, trkA (EC 2.7.10.1)
    Language English
    Publishing date 2013-08-12
    Publishing country Netherlands
    Document type Journal Article ; Review
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-444-52902-2.00050-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Hereditary Neuropathies: Update 2017.

    Rudnik-Schöneborn, Sabine / Auer-Grumbach, Michaela / Senderek, Jan

    Neuropediatrics

    2017  Volume 48, Issue 4, Page(s) 282–293

    MeSH term(s) Diagnosis, Differential ; Genetic Predisposition to Disease/genetics ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/metabolism ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans
    Language English
    Publishing date 2017-06-08
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0037-1603518
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Hereditary sensory neuropathy type I.

    Auer-Grumbach, Michaela

    Orphanet journal of rare diseases

    2008  Volume 3, Page(s) 7

    Abstract: Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The ... ...

    Abstract Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin tumours like amelanotic melanoma. Management of HSN I follows the guidelines given for diabetic foot care (removal of pressure to the ulcer and eradication of infection, followed by the use of specific protective footwear) and starts with early and accurate counselling of patients about risk factors for developing foot ulcerations. The disorder is slowly progressive and does not influence life expectancy but is often severely disabling after a long duration of the disease.
    MeSH term(s) Foot Diseases/etiology ; Foot Diseases/genetics ; Foot Diseases/prevention & control ; Genetic Linkage/genetics ; Hereditary Sensory and Autonomic Neuropathies/classification ; Hereditary Sensory and Autonomic Neuropathies/diagnosis ; Hereditary Sensory and Autonomic Neuropathies/genetics ; Hereditary Sensory and Autonomic Neuropathies/therapy ; Humans ; Mutation/genetics
    Language English
    Publishing date 2008-03-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/1750-1172-3-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Reduction in

    Rettl, René / Calabretta, Raffaella / Duca, Franz / Binder, Christina / Kronberger, Christina / Willixhofer, Robin / Poledniczek, Michael / Donà, Carolina / Nitsche, Christian / Beitzke, Dietrich / Loewe, Christian / Auer-Grumbach, Michaela / Bonderman, Diana / Kastl, Stefan / Hengstenberg, Christian / Badr Eslam, Roza / Kastner, Johannes / Bergler-Klein, Jutta / Hacker, Marcus /
    Kammerlander, Andreas

    Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

    2023  Volume 31, Issue 1, Page(s) 42–51

    Abstract: Aims: ...

    Abstract Aims:
    MeSH term(s) Humans ; Quality of Life ; Organotechnetium Compounds ; Cardiomyopathies/diagnostic imaging ; Cardiomyopathies/drug therapy ; Cardiomyopathies/genetics ; Amyloid Neuropathies, Familial/diagnostic imaging ; Amyloid Neuropathies, Familial/drug therapy ; Amyloid Neuropathies, Familial/genetics ; Myocardium
    Chemical Substances Organotechnetium Compounds
    Language English
    Publishing date 2023-08-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 1205246-2
    ISSN 1744-2818 ; 1350-6129
    ISSN (online) 1744-2818
    ISSN 1350-6129
    DOI 10.1080/13506129.2023.2247136
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Hereditary Neuropathies: Update 2017

    Rudnik-Schöneborn, Sabine / Auer-Grumbach, Michaela / Senderek, Jan

    Neuropediatrics

    (Neuromuscular Disorders in Children and Adolescents)

    2017  Volume 48, Issue 04, Page(s) 282–293

    Abstract: Hereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are ...

    Series title Neuromuscular Disorders in Children and Adolescents
    Abstract Hereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes ( PMP22 GJB1 MPZ MFN2 ) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.
    Keywords Charcot–Marie–Tooth's disease ; hereditary motor and sensory neuropathy ; hereditary neuropathy with liability to pressure palsies ; hereditary motor neuropathy ; distal spinal muscular atrophy ; hereditary sensory and autonomic neuropathy ; genetic testing algorithm ; genotype–phenotype correlation
    Language English
    Publishing date 2017-06-08
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0037-1603518
    Database Thieme publisher's database

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  9. Article ; Online: Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.

    Haidar, Mansour / Asselbergh, Bob / Adriaenssens, Elias / De Winter, Vicky / Timmermans, Jean-Pierre / Auer-Grumbach, Michaela / Juneja, Manisha / Timmerman, Vincent

    Autophagy

    2019  Volume 15, Issue 6, Page(s) 1051–1068

    Abstract: HSPB1 (heat shock protein family B [small] member 1) is a ubiquitously expressed molecular chaperone. Most mutations in HSPB1 cause axonal Charcot-Marie-Tooth neuropathy and/or distal hereditary motor neuropathy. In this study we show that mutations in ... ...

    Abstract HSPB1 (heat shock protein family B [small] member 1) is a ubiquitously expressed molecular chaperone. Most mutations in HSPB1 cause axonal Charcot-Marie-Tooth neuropathy and/or distal hereditary motor neuropathy. In this study we show that mutations in HSPB1 lead to impairment of macroautophagic/autophagic flux. In HSPB1 knockout cells, we demonstrate that HSPB1 is necessary for autophagosome formation, which was rescued upon re-expression of HSPB1. Employing a label-free LC-MS/MS analysis on the various HSPB1 variants (wild type and mutants), we identified autophagy-specific interactors. We reveal that the wild-type HSPB1 protein binds to the autophagy receptor SQSTM1/p62 and that the PB1 domain of SQSTM1 is essential for this interaction. Mutations in HSPB1 lead to a decrease in the formation of SQSTM1/p62 bodies, and subsequent impairment of phagophore formation, suggesting a regulatory role for HSPB1 in autophagy via interaction with SQSTM1. Remarkably, autophagy deficits could also be confirmed in patient-derived motor neurons thereby indicating that the impairment of autophagy might be one of the pathomechanisms by which mutations in HSPB1 lead to peripheral neuropathy. Abbreviations: ACD: alpha-crystallin domain; ALS: amyotrophic lateral sclerosis; ATG14: autophagy related 14; BAG1/3: BCL2 associated athanogene 1/3; CMT: Charcot-Marie-Tooth; dHMN: distal hereditary motor neuropathy; GFP: green fluorescent protein; HSPA8: heat shock protein family A (Hsp70) member 8; HSPB1/6/8: heat shock protein family B (small) member 1/6/8; LIR: LC3-interacting region; LC3B: microtubule associated protein 1 light chain 3 beta; PB1: Phox and Bem1; SQSTM1: sequestosome 1; STUB1/CHIP: STIP1 homology and U-box containing protein 1; UBA: ubiquitin-associated; WIPI1: WD repeat domain, phosphoinositide interacting 1; WT: wild-type.
    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; Autophagosomes/metabolism ; Autophagosomes/ultrastructure ; Autophagy/genetics ; Charcot-Marie-Tooth Disease/genetics ; Chromatography, Liquid ; HeLa Cells ; Heat-Shock Proteins/chemistry ; Heat-Shock Proteins/genetics ; Heat-Shock Proteins/metabolism ; Humans ; Induced Pluripotent Stem Cells/drug effects ; Induced Pluripotent Stem Cells/metabolism ; Molecular Chaperones/chemistry ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Muscular Atrophy, Spinal/genetics ; Mutation ; Protein Domains ; Sequestosome-1 Protein/chemistry ; Sequestosome-1 Protein/genetics ; Sequestosome-1 Protein/metabolism ; Tandem Mass Spectrometry
    Chemical Substances HSPB1 protein, human ; Heat-Shock Proteins ; Molecular Chaperones ; SQSTM1 protein, human ; Sequestosome-1 Protein
    Language English
    Publishing date 2019-01-31
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2454135-7
    ISSN 1554-8635 ; 1554-8627
    ISSN (online) 1554-8635
    ISSN 1554-8627
    DOI 10.1080/15548627.2019.1569930
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6741: Show issues Location:
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  10. Article ; Online: A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon.

    Høyer, Helle / Hilmarsen, Hilde T / Sunder-Plassmann, Raute / Braathen, Geir J / Andersen, Peter M / Beetz, Christian / Hacker, Sandra / Holla, Øystein L / Kurth, Ingo / Löscher, Wolfgang N / Reiter, Simone B C F / Rudnik-Schöneborn, Sabine / Strand, Linda / Windhager, Reinhard / Witsch-Baumgartner, Martina / Senderek, Jan / Auer-Grumbach, Michaela

    Journal of medical genetics

    2022  Volume 59, Issue 10, Page(s) 1024–1026

    MeSH term(s) Alleles ; Endrin/analogs & derivatives ; Exons/genetics ; Gene Frequency ; Humans ; Mutation
    Chemical Substances MME (78185-58-7) ; Endrin (OB9NVE7YCL)
    Language English
    Publishing date 2022-03-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2021-108281
    Database MEDical Literature Analysis and Retrieval System OnLINE

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