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Academic Journal

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Authors : Shimizu, Yusaku¹; Yoshida, Kunihiro² ; Okano, Tomomi³

Source: Journal of Human Genetics. 2004, Vol. 49 Issue 11, p610-616. 7p.

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Academic Journal

Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.

Authors : Georgopoulos, N. A.^1,2; Papapetropoulos, S.³; Chroni, E.³

Source: Gynecological Endocrinology. Aug2004, Vol. 19 Issue 2, p105-110. 6p.

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Academic Journal

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.

Authors : Zühlke, C H¹ ; Dalski, A¹; Habeck, M¹

Source: European Journal of Human Genetics. Nov2004, Vol. 12 Issue 11, p979-982. 4p.

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Academic Journal

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.

Authors : Takahashi, Hiroki¹; Ishikawa, Kinya¹; Tsutsumi, Takeshi²

Source: Journal of Human Genetics. 2004, Vol. 49 Issue 5, p256-264. 9p.

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Academic Journal

Spinocerebellar ataxia with a novel chromosomal defect: del 5q34 -- A case report.

Authors : Koç, A. Filiz¹ ; Sarica, Yakup¹; Süleymanova#Karahan, Dilara²

Source: Turkish Journal of Medical Sciences. 2004, Vol. 34 Issue 3, p205-208. 4p.

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Academic Journal

Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance.

Authors : Rüb, U.¹ ; Brunt, E. R.²; De Vos, R. A. I.³

Source: Neuropathology & Applied Neurobiology. Aug2004, Vol. 30 Issue 4, p402-414. 13p.

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Academic Journal

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families.

Authors : Mariotti, C.¹ ; Gellera, C.¹; Rimoldi, M.¹

Source: Neurological Sciences. Jul2004, Vol. 25 Issue 3, p130-137. 8p.

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Academic Journal

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Authors : Tsai, H.-F.^1,2; Liu, C.-S.^3,4; Leu, T.-M.⁵

Source: Acta Neurologica Scandinavica. May2004, Vol. 109 Issue 5, p355-360. 6p.

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Academic Journal

Expanded GAA repeats and clinical variation in Friedreich's ataxia.

Authors : Mateo, I.¹; Llorca, J.²; Volpini, V.³

Source: Acta Neurologica Scandinavica. Jan2004, Vol. 109 Issue 1, p75-78. 4p.

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Academic Journal

Childhood Ataxia with Cerebral Hypomyelination (CACH) syndrome: A study of three siblings.

Authors : Vaidya, Sachin R.¹; Desai, Shrinivas B.¹; Khadilkar, Satish V.¹

Source: Neurology India. Sep2004, Vol. 52 Issue 3, p372-374. 3p.

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نتائج البحث

فلترة النتائج

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.

Spinocerebellar ataxia with a novel chromosomal defect: del 5q34 -- A case report.

Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance.

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families.

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Expanded GAA repeats and clinical variation in Friedreich's ataxia.

Childhood Ataxia with Cerebral Hypomyelination (CACH) syndrome: A study of three siblings.

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