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320 results

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Page 1
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L. Synofzik M, et al. Among authors: schule r. Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41. Orphanet J Rare Dis. 2013. PMID: 23497566 Free PMC article.
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martínez MM, Farooq A, Schüle R, Stevanin G, Marques W Jr, Züchner S. Synofzik M, et al. Among authors: schule r. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Brain. 2014. PMID: 24355708 Free PMC article.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M. Mallaret M, et al. Among authors: schule r. Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24. Brain. 2014. PMID: 24369382 Free PMC article.
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M. Bonifert T, et al. Among authors: schule r. Brain. 2014 Aug;137(Pt 8):2164-77. doi: 10.1093/brain/awu165. Epub 2014 Jun 25. Brain. 2014. PMID: 24970096 Free PMC article.
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia.
Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schöls L, Bauer P. Schlipf NA, et al. Among authors: schule r. Mol Genet Genomic Med. 2014 Sep;2(5):379-82. doi: 10.1002/mgg3.87. Epub 2014 May 25. Mol Genet Genomic Med. 2014. PMID: 25333062 Free PMC article.
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schönfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Züchner S, Schüle R, Schöls L, Prokisch H. Synofzik M, et al. Among authors: schule r. Am J Hum Genet. 2014 Dec 4;95(6):689-97. doi: 10.1016/j.ajhg.2014.10.013. Epub 2014 Nov 20. Am J Hum Genet. 2014. PMID: 25466870 Free PMC article.
320 results