1 - 25 of 40 results for author:"Topaloglu H." in Literature citations
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| Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Zhou J., Tawk M., Tiziano F.D., Veillet J., Bayes M., Nolent F., Garcia V., Servidei S., Bertini E., Castro-Giner F. et al. Am. J. Hum. Genet. 91:5-14(2012) · UniProtKB (1) · Mapped (8) |
| Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Gulsuner S., Tekinay A.B., Doerschner K., Boyaci H., Bilguvar K., Unal H., Ors A., Onat O.E., Atalar E., Basak A.N. et al. Genome Res. 21:1995-2003(2011) · UniProtKB (2) |
| A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Mitsuhashi S., Ohkuma A., Talim B., Karahashi M., Koumura T., Aoyama C., Kurihara M., Quinlivan R., Sewry C., Mitsuhashi H. et al. Am. J. Hum. Genet. 88:845-851(2011) · Mapped (6) |
| A dystroglycan mutation associated with limb-girdle muscular dystrophy. Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., Kanagawa M., Beltran-Valero de Bernabe D., Gundesli H., Willer T., Satz J.S., Crawford R.W., Burden S.J. et al. N. Engl. J. Med. 364:939-946(2011) · UniProtKB (1) · Mapped (4) |
| Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Gundesli H., Talim B., Korkusuz P., Balci-Hayta B., Cirak S., Akarsu N.A., Topaloglu H., Dincer P. Am. J. Hum. Genet. 87:834-841(2010) · UniProtKB (1) · Mapped (3) |
| Early onset collagen VI myopathies: Genetic and clinical correlations. Brinas L., Richard P., Quijano-Roy S., Gartioux C., Ledeuil C., Lacene E., Makri S., Ferreiro A., Maugenre S., Topaloglu H. et al. Ann. Neurol. 68:511-520(2010) · Mapped (6) |
| Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Kurth I., Pamminger T., Hennings J.C., Soehendra D., Huebner A.K., Rotthier A., Baets J., Senderek J., Topaloglu H., Farrell S.A. et al. Nat. Genet. 41:1179-1181(2009) · UniProtKB (4) · Mapped (22) |
| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Clement E., Mercuri E., Godfrey C., Smith J., Robb S., Kinali M., Straub V., Bushby K., Manzur A., Talim B. et al. Ann. Neurol. 64:573-582(2008) · UniProtKB (2) |
| A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Jimenez-Mallebrera C., Torelli S., Feng L., Kim J., Godfrey C., Clement E., Mein R., Abbs S., Brown S.C., Campbell K.P. et al. Brain Pathol. 19:596-611(2009) · Mapped (2) |
| Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Lehtokari V.L., Pelin K., Donner K., Voit T., Rudnik-Schoneborn S., Stoetter M., Talim B., Topaloglu H., Laing N.G., Wallgren-Pettersson C. Eur. J. Hum. Genet. 16:1055-1061(2008) · Mapped (19) |
| Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Hehr U., Bauer P., Winner B., Schule R., Olmez A., Koehler W., Uyanik G., Engel A., Lenz D., Seibel A. et al. Ann. Neurol. 62:656-665(2007) · Mapped (5) |
| Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Hehr U., Uyanik G., Gross C., Walter M.C., Bohring A., Cohen M., Oehl-Jaschkowitz B., Bird L.M., Shamdeen G.M., Bogdahn U. et al. Neurogenetics 8:279-288(2007) · Mapped (6) |
| Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Godfrey C., Clement E., Mein R., Brockington M., Smith J., Talim B., Straub V., Robb S., Quinlivan R., Feng L. et al. |
| Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Manya H., Bouchet C., Yanagisawa A., Vuillaumier-Barrot S., Quijano-Roy S., Suzuki Y., Maugenre S., Richard P., Inazu T., Merlini L. et al. Neuromuscul. Disord. 18:45-51(2008) · Mapped (15) |
| The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Gempel K., Topaloglu H., Talim B., Schneiderat P., Schoser B.G., Hans V.H., Palmafy B., Kale G., Tokatli A., Quinzii C. et al. Brain 130:2037-2044(2007) · Mapped (6) |
| Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Uyanik G., Elcioglu N., Penzien J., Gross C., Yilmaz Y., Olmez A., Demir E., Wahl D., Scheglmann K., Winner B. et al. Neurology 66:1044-1048(2006) · Mapped (11) |
| Mutations in SIL1 cause Marinesco-Sjoegren syndrome, a cerebellar ataxia with cataract and myopathy. Senderek J., Krieger M., Stendel C., Bergmann C., Moser M., Breitbach-Faller N., Rudnik-Schoeneborn S., Blaschek A., Wolf N.I., Harting I. et al. |
| Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Giusti B., Lucarini L., Pietroni V., Lucioli S., Bandinelli B., Sabatelli P., Squarzoni S., Petrini S., Gartioux C., Talim B. et al. |
| Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Vainzof M., Richard P., Herrmann R., Jimenez-Mallebrera C., Talim B., Yamamoto L.U., Ledeuil C., Mein R., Abbs S., Brockington M. et al. Neuromuscul. Disord. 15:588-594(2005) · Mapped (2) |
| Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. D'Amico A., Haliloglu G., Richard P., Talim B., Maugenre S., Ferreiro A., Guicheney P., Menditto I., Benedetti S., Bertini E. et al. Neuromuscul. Disord. 15:521-524(2005) · Mapped (12) |
| An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Balci B., Uyanik G., Dincer P., Gross C., Willer T., Talim B., Haliloglu G., Kale G., Hehr U., Winkler J. et al. Neuromuscul. Disord. 15:271-275(2005) · UniProtKB (1) · Mapped (8) |
| Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Uhlenberg B., Schuelke M., Rueschendorf F., Ruf N., Kaindl A.M., Henneke M., Thiele H., Stoltenburg-Didinger G., Aksu F., Topaloglu H. et al. Am. J. Hum. Genet. 75:251-260(2004) · UniProtKB (1) |
| Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Richter A.M., Ozgul R.K., Poisson V.C., Topaloglu H. Neurogenetics 5:165-170(2004) · UniProtKB (1) |
| Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Grohmann K., Varon R., Stolz P., Schuelke M., Janetzki C., Bertini E., Bushby K., Muntoni F., Ouvrier R., Van Maldergem L. et al. Ann. Neurol. 54:719-724(2003) · UniProtKB (1) |
| A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Beltran-Valero de Bernabe D., van Bokhoven H., van Beusekom E., Van den Akker W., Kant S., Dobyns W.B., Cormand B., Currier S., Hamel B.C.J., Talim B. et al. J. Med. Genet. 40:845-848(2003) · UniProtKB (1) · Mapped (3) |