Michaela Auer Grumbach
- Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutationMichaela Auer-Grumbach
Institute of Medical Biology and Human Genetics, Medical University Graz, Harachgasse 21 8, A 08010 Graz, Austria
Ann Neurol 57:415-24. 2005..Sensory nerve conduction studies were rarely pathological. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders...
- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeBarbara Rohkamm
Institute of Human Genetics, Medical University Graz, Austria
J Neurol Sci 263:100-6. 2007..Mutations in the heat-shock proteins HSPB1 and HSPB8 can cause related distal hereditary motor neuropathies (dHMN) and are considered candidates for dHMN-V, CMT2, and SS...
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger
Institute of Medical Biology and Human Genetics, Medical University Graz, Harrachgasse 21 8, A 8010 Graz, Austria
Nat Genet 36:271-6. 2004..We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration...
- Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genesChristian Windpassinger
Institute of Medical Biology and Human Genetics, Karl Franzens University Graz, Harrachgasse 21 8, 8010 Graz, Austria
Hum Genet 114:99-109. 2003....
- Hereditary sensory neuropathiesMichaela Auer-Grumbach
Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria
Drugs Today (Barc) 40:385-94. 2004..They will also be the basis for functional studies in the future...
- The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type VJoy Irobi
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
Brain 127:2124-30. 2004..These observations broaden the clinical phenotype of disorders associated with BSCL2 mutations, having consequences for molecular genetic testing...
- Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL geneGabriel Miltenberger-Miltenyi
Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A 6020 Innsbruck, Austria
Arch Neurol 64:966-70. 2007..NEFL mutations were found to be associated with axonal and demyelinating variants of CMT...
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick
Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
Brain 131:1217-27. 2008....
- Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova
Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
Arch Neurol 64:706-13. 2007..To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia...
- Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole causeChristian Beetz
Hum Mutat 28:739-40. 2007
- Molecular genetics of hereditary sensory neuropathiesMichaela Auer-Grumbach
Department of Internal Medicine, Medical Research Center, Medical University of Graz, Stiftingtalstrasse 24, A 8010 Graz, Austria
Neuromolecular Med 8:147-58. 2006..Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes...
- MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2Kristien Verhoeven
Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
Brain 129:2093-102. 2006..In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population...
- Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathyKristien Verhoeven
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Antwerp, Belgium
Am J Hum Genet 72:722-7. 2003..The alignment of RAB7 orthologs shows that both missense mutations target highly conserved amino acid residues. RAB7 is ubiquitously expressed, and we found expression in sensory and motor neurons...
- Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov
Department of Psychiatry, New York State Psychiatric Institute Research Foundation for Mental Hygiene, Unit 28, 1051 Riverside Drive, New York, New York 10032, USA
Nat Genet 36:602-6. 2004..Cotransfection of neurofilament light chain (NEFL) and mutant HSPB1 resulted in altered neurofilament assembly in cells devoid of cytoplasmic intermediate filaments...
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying Zhang Chen
Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 74:1128-35. 2004..These observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing...
- Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing Jen Lee
Division of Clinical Neurology and Department of Molecular Pathogenesis, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
Hum Mol Genet 12:1917-25. 2003..This is the first report of a mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mis-folding proteins may be a cause of this group of neuropathies...
- Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin
Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
Am J Med Genet A 146:1530-42. 2008..This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed...