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Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

• Joanna T Pang, Paola Giunti, +7 authors Olaf Ansorge
• Brain : a journal of neurology
• 2002

Spinocerebellar ataxia 2 (SCA2) belongs to the family of autosomal dominant cerebellar ataxias (ADCA), a genetically heterogeneous group of neurodegenerative diseases. The SCA2 gene maps to… (More)

A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin

• Joanna T Pang, Rebecca A Allotey, Noshir Wadia, Hidenao Sasaki, Laurence Bindoff, Susan Chamberlain
• European Journal of Human Genetics
• 1999

The identification of a CAG trinucleotide repeat expansion, located within the coding sequence of the ataxin-2 gene, as the mutation underlying spinocerebellar ataxia 2 (SCA2) has facilitated direct… (More)

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis

• Scott C. Reinhart, Anthony G. W. Norden, +7 authors Steven J. Scheinman
• Pediatric Nephrology
• 1995

X-linked recessive nephrolithiasis (XRN) was described in a large kindred in which nephrolithiasis; proximal tubular dysfunction, proteinuria, nephrocalcinosis, and renal failure occur only in males.… (More)

A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.

• Noshir Wadia, Joanna T Pang, Jayashree Desai, Ami Mankodi, Minal Desai, Susan Chamberlain
• Brain : a journal of neurology
• 1998

Clinical revaluation and genetic analysis of six Indian pedigrees, segregating autosomal dominant cerebellar ataxia, slow saccades and peripheral neuropathy, has been undertaken, and expansion at the… (More)

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