Publications

Schöls L, Zange J, Abele M, Schillings M, Skipka G, Kuntz-Hehner S, van Beekvelt MC, Colier WN, Muller K, Klockgether T, Przuntek H, Vorgerd M (2005) L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. J Neural Transm 112(6): 789-96.


Rub U, Del Turco D, Burk K, Diaz GO, Auburger G, Mittelbronn M, Gierga K, Ghebremedhin E, Schultz C, Schöls L, Bohl J, Braak H, Deller T (2005) Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2. Neuropathol Appl Neurobiol 31(2): 127-40.


Rub U, Gierga K, Brunt ER, de Vos RA, Bauer M, Schöls L, Burk K, Auburger G, Bohl J, Schultz C, Vuksic M, Burbach GJ, Braak H, Deller T (2005) Spinocerebellar ataxias types 2 and 3: degeneration of the precerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum. J Neural Transm 112(11): 1523-45.


Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G (2005) New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 58(5): 720-9.


Kamm C, Healy DG, Quinn NP, Wullner U, Moller JC, Schöls L, Geser F, Burk K, Borglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T (2005) The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 128(Pt 8): 1855-60.


Kamm C and Gasser T. The variable phenotpye of FXTAS: A common cause for „idiopathic“ disorders”. Neurology 2005, 65(2):190-1.  


Peters N, , Asmus F, Holinski-Feder E, Kraft E, Dichgans M, Brüning R, Gasser T, and Bötzel K. Intrafamilial variability in fragile-X-associated tremor/ataxia syndrome (FXTAS). Mov Dis, in press.


Gierga K, Burk K, Bauer M, Orozco Diaz G, Auburger G, Schultz C, Vuksic M, Schöls L, de Vos RA, Braak H, Deller T, Rub U (2005) Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2). Acta Neuropathol (Berl) 109(6): 617-31.


Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3(5): 291-304.


Schöls L, Meyer C, Schmid G, Wilhelms I, Przuntek H (2004) Therapeutic strategies in Friedreich's ataxia. J Neural Transm Suppl(68): 135-45.


Rub U, Burk K, Schöls L, Brunt ER, de Vos RA, Diaz GO, Gierga K, Ghebremedhin E, Schultz C, Del Turco D, Mittelbronn M, Auburger G, Deller T, Braak H (2004) Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3. Neurology 63(7): 1258-63.


Postert T, Eyding J, Berg D, Przuntek H, Becker G, Finger M, Schöls L (2004) Transcranial sonography in spinocerebellar ataxia type 3. J Neural Transm Suppl(68): 123-33.


Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M (2004) Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 36(3): 225-7.


Schöls L, Bauer I, Zuhlke C, Schulte T, Kolmel C, Burk K, Topka H, Bauer P, Przuntek H, Riess O (2003) Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 54(1): 110-5.


Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schöls L, Riess O (2003) Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54(3): 367-75.


Abele M, Schöls L, Schwartz S, Klockgether T (2003) Prevalence of antigliadin antibodies in ataxia patients. Neurology 60(10): 1674-5.


Schwenkreis P, Tegenthoff M, Witscher K, Bornke C, Przuntek H, Malin JP, Schöls L (2002) Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect. Brain 125(Pt 2): 301-9.


Schmidt T, Lindenberg KS, Krebs A, Schöls L, Laccone F, Herms J, Rechsteiner M, Riess O, Landwehrmeyer GB (2002) Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann Neurol 51(3): 302-10.


Abele M, Burk K, Schöls L, Schwartz S, Besenthal I, Dichgans J, Zuhlke C, Riess O, Klockgether T (2002) The aetiology of sporadic adult-onset ataxia. Brain 125(Pt 5): 961-8.


Schulte T, Mattern R, Berger K, Szymanski S, Klotz P, Kraus PH, Przuntek H, Schöls L (2001) Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease. Arch Neurol 58(9): 1451-7.


Schöls L, Vorgerd M, Schillings M, Skipka G, Zange J (2001) Idebenone in patients with Friedreich ataxia. Neurosci Lett 306(3): 169-72.


Figueroa KP, Chan P, Schöls L, Tanner C, Riess O, Perlman SL, Geschwind DH, Pulst SM (2001) Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Arch Neurol 58(10): 1649-53.


Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zuhlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ (2001) The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. J Mol Med 78(11): 626-32.


Vorgerd M, Schöls L, Hardt C, Ristow M, Epplen JT, Zange J (2000) Mitochondrial impairment of human muscle in Friedreich ataxia in vivo. Neuromuscul Disord 10(6): 430-5.


Schulz JB, Dehmer T, Schöls L, Mende H, Hardt C, Vorgerd M, Burk K, Matson W, Dichgans J, Beal MF, Bogdanov MB (2000) Oxidative stress in patients with Friedreich ataxia. Neurology 55(11): 1719-21.


Schöls L, Szymanski S, Peters S, Przuntek H, Epplen JT, Hardt C, Riess O (2000) Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 107(2): 132-7.


Schöls L, Peters S, Szymanski S, Kruger R, Lange S, Hardt C, Riess O, Przuntek H (2000) Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 57(10): 1495-500.


Hebinck J, Hardt C, Schöls L, Vorgerd M, Briedigkeit L, Kahn CR, Ristow M (2000) Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans. Diabetes 49(9): 1604-7.


Klockgether T, Schöls L, Abele M, Burk K, Topka H, Andres F, Amoiridis G, Ludtke R, Riess O, Laccone F, Dichgans J (1999) Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry 66(2): 222-4.


Dichgans M, Schöls L, Herzog J, Stevanin G, Weirich-Schwaiger H, Rouleau G, Burk K, Klockgether T, Zuhlke C, Laccone F, Riess O, Gasser T (1999) Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families. Neurology 52(4): 849-51.
Schöls L, Kruger R, Amoiridis G, Przuntek H, Epplen JT, Riess O (1998)


Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J Neurol Neurosurg Psychiatry 64(1): 67-73.


Schöls L, Haan J, Riess O, Amoiridis G, Przuntek H (1998) Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome? Neurology 51(6): 1603-7.


Schmidt T, Landwehrmeyer GB, Schmitt I, Trottier Y, Auburger G, Laccone F, Klockgether T, Volpel M, Epplen JT, Schöls L, Riess O (1998) An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol 8(4): 669-79.


Klockgether T, Ludtke R, Kramer B, Abele M, Burk K, Schöls L, Riess O, Laccone F, Boesch S, Lopes-Cendes I, Brice A, Inzelberg R, Zilber N, Dichgans J (1998) The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 121 ( Pt 4): 589-600.


Schöls L, Amoiridis G, Langkafel M, Schöls S, Przuntek H (1997) Motor evoked potentials in the spinocerebellar ataxias type 1 and type 3. Muscle Nerve 20(2): 226-8.


Schöls L, Riess O, Amoiridis G, Riess A, Przuntek H, Epplen JT (1997) [Genetic diagnosis, classification and clinical hereditary ataxia disease entities]. Fortschr Neurol Psychiatr 65(2): 79-89.


Schöls L, Gispert S, Vorgerd M, Menezes Vieira-Saecker AM, Blanke P, Auburger G, Amoiridis G, Meves S, Epplen JT, Przuntek H, Pulst SM, Riess O (1997) Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch Neurol 54(9): 1073-80.


Schöls L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O (1997) Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 42(6): 924-32.


Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C (1997) Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 120 ( Pt 12): 2131-40.


Riess O, Epplen JT, Amoiridis G, Przuntek H, Schöls L (1997) Transmission distortion of the mutant alleles in spinocerebellar ataxia. Hum Genet 99(2): 282-4.


Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M, Jr., Krebsova A, Macek MS, Klockgether T, Zuhlke C, Laccone FA (1997) SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 6(8): 1289-93.


Riess O, Laccone FA, Gispert S, Schöls L, Zuhlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M, Jr., Krebsova A, Macek M, Sr., Burk K, Tinschert S, Schreyer I, Pulst SM, Auburger G (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1(1): 59-64.


Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schöls L (1997) Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 99(6): 834-6.


Schöls L, Amoiridis G, Epplen JT, Langkafel M, Przuntek H, Riess O (1996) Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation. J Neurol Neurosurg Psychiatry 61(5): 466-70.


Klockgether T, Kramer B, Ludtke R, Schöls L, Laccone F (1996) Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 348(9030): 830.


Schöls L, Vieira-Saecker AM, Schöls S, Przuntek H, Epplen JT, Riess O (1995) Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum Mol Genet 4(6): 1001-5.


Schöls L, Amoiridis G, Langkafel M, Buttner T, Przuntek H, Riess O, Vieira-Saecker AM, Epplen JT (1995) Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J Neurol Neurosurg Psychiatry 59(4): 449-50.


Schöls L, Riess O, Schöls S, Zeck S, Amoiridis G, Langkafel M, Epplen JT, Przuntek H (1995) Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds. Acta Neurol Scand 92(6): 478-85.


Reichmann H, Janetzky B, Bischof F, Seibel P, Schöls L, Kuhn W, Przuntek H (1994) Unaltered respiratory chain enzyme activity and mitochondrial DNA in skeletal muscle from patients with idiopathic Parkinson's syndrome. Eur Neurol 34(5): 263-7.


Heinz A, Wohrle J, Schöls L, Klotz P, Kuhn W, Przuntek H (1992) Continuous subcutaneous lisuride infusion in OPCA. J Neural Transm Gen Sect 90(2): 145-50.


Eiber J, Weber K, Schöls L (1992) [Cardiomyopathy in Friedreich's ataxia]. Dtsch Med Wochenschr 117(11): 432-6.