AAAAAA

   
Results: 1-12 |
Results: 12
Analysis of mutations in ATP7B gene and experience of the direct DNA-diagnosis in hepatolenticular degeneration
Authors: Karabanov, AV Ovchinnikov, IV Illarioshkin, SN Poleschuk, VV Slominsky, PA Markova, ED Rebrova, OY Limborskaya, SA Ivanova-Smolenskaya, IA
Citation: Av. Karabanov et al., Analysis of mutations in ATP7B gene and experience of the direct DNA-diagnosis in hepatolenticular degeneration, ZH NEVR PS, 101(4), 2001, pp. 44-47
Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects
Authors: Periquet, M Lucking, CB Vaughan, JR Bonifati, V Durr, A De Michele, G Horstink, MW Farrer, M Illarioshkin, SN Pollak, P Borg, M Brefel-Courbon, C Denefle, P Meco, G Gasser, T Breteler, MMB Wood, NW Agid, Y Brice, A
Citation: M. Periquet et al., Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects, AM J HU GEN, 68(3), 2001, pp. 617-626
Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features
Authors: Illarioshkin, SN Bagieva, GK Klyushnikov, SA Ovchinnikov, IV Markova, ED Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et al., Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features, EUR J NEUR, 7(5), 2000, pp. 535-540
Molecular genetic analysis of torsion dystonia in Russia
Authors: Markova, ED Slominsky, PA Illarioshkin, SN Miklina, NI Shadrina, MI Popova, SN Limborska, SA Ivanova-Smolenskaya, IA
Citation: Ed. Markova et al., Molecular genetic analysis of torsion dystonia in Russia, RUSS J GEN, 36(7), 2000, pp. 785-790
Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan
Authors: Illarioshkin, SN Ivanova-Smolenskaya, IA Rahmonov, RA Markova, ED Stevanin, G Brice, A
Citation: Sn. Illarioshkin et al., Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan, MOVEMENT D, 15(5), 2000, pp. 1020-1023
Lack of alpha-synuclein gene mutations in families with autosomal dominantParkinson's disease in Russia
Authors: Illarioshkin, SN Ivanova-Smolenskaya, IA Markova, ED Zagorovskaya, TB Brice, A
Citation: Sn. Illarioshkin et al., Lack of alpha-synuclein gene mutations in families with autosomal dominantParkinson's disease in Russia, J NEUROL, 247(12), 2000, pp. 968-969
Molecular genetics of the hereditary dystonic syndromes
Authors: Illarioshkin, SN Markova, ED Miklina, NI Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et al., Molecular genetics of the hereditary dystonic syndromes, ZH NEVR PS, 100(8), 2000, pp. 60-66
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B anddistal myopathy
Authors: Illarioshkin, SN Ivanova-Smolenskaya, IA Greenberg, CR Nylen, E Sukhorukov, VS Poleshchuk, VV Markova, ED Wrogemann, K
Citation: Sn. Illarioshkin et al., Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B anddistal myopathy, NEUROLOGY, 55(12), 2000, pp. 1931-1933
A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia
Authors: Markova, ED Slominsky, PA Illarioshkin, SN Miklina, NI Popova, SN Limborska, SA Ivanova-Smolenskaya, IA
Citation: Ed. Markova et al., A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia, EUR J NEUR, 6(5), 1999, pp. 605-608
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia
Authors: Illarioshkin, SN Allen, KM Gleeson, JG Tsuji, S Ikeuchi, T Markova, ED Walsh, CA Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et al., Studies of the candidate genes in X-linked congenital cerebellar hypoplasia, J NEUROL, 246(12), 1999, pp. 1177-1180
Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA-diagnosis
Authors: Illarioshkin, SN Druzina, EB Bagieva, GK Markova, ED Miklina, NI Ovchinnikov, IV Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et al., Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA-diagnosis, ZH NEVR PS, 99(8), 1999, pp. 31-34
Molecular basis of progressing muscular dystrophias
Authors: Illarioshkin, SN Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et Ia. Ivanova-smolenskaya, Molecular basis of progressing muscular dystrophias, ZH NEVR PS, 98(10), 1998, pp. 55-62
Risultati: 1-12 |