H. Matsumine

发表

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

S. Minoshima, N. Shimizu, N. Hattori, 1998, Nature.

Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene.

S. Blumen, R. Carasso, N. Hattori, 1999, Neurology.

Mitochondrial dysfunction in parkinson's disease

N. Hattori, H. Yoshino, Y. Mizuno, 1998, Annals of neurology.

Clinical, pathologic and genetic studies on autosomal recessive early-onset parkinsonism with diurnal fluctuation.

Y. Mizuno, S. Kuzuhara, H. Matsumine, 1998, Parkinsonism & related disorders.

Pseudo-autosomal dominant inheritance of PARK2: two families with parkin gene mutations

N. Hattori, Y. Mizuno, H. Matsumine, 2003, Journal of the Neurological Sciences.

Structural dimorphism in the mitochondrial targeting sequence in the human manganese superoxide dismutase gene. A predictive evidence for conformational change to influence mitochondrial transport and a study of allelic association in Parkinson's disease.

Y. Mizuno, H. Matsumine, Y. Nakagawa-Hattori, 1996, Biochemical and biophysical research communications.

Structural Dimorphism in the Mitochondrial Targeting Sequence in the Human Manganese Superoxide Dismutase Gene: A Predictive Evidence for Conformational Change to Influence Mitochondrial Transport and a Study of Allelic Association in Parkinson's Disease: Volume226,Number 2 (1996), pages 561–565:

Y. Mizuno, H. Matsumine, Y. Nakagawa-Hattori, 1996 .

Parkin gene causing benign autosomal recessive juvenile parkinsonism

S. Blumen, R. Carasso, N. Hattori, 2001, Neurology.

A loss-of-function mechanism of nigral neuron death without Lewy body formation: autosomal recessive juvenile parkinsonism (AR-JP)

H. Matsumine, 1998, Journal of Neurology.

Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis.

N. Hattori, Y. Mizuno, H. Matsumine, 2001, Methods in molecular medicine.

Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.

A. Brookes, S. Minoshima, N. Shimizu, 1998, Biochemical and biophysical research communications.

PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism.

Y Mizuno, S Minoshima, Y Yamamura, 2000, Journal of neural transmission. Supplementum.

A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2).

Y Mizuno, Y Yamamura, N. Hattori, 1998, Genomics.

Positional cloning of the autosomal recessive juvenile parkinsonism (AR-JP) gene and its diversity in deletion mutations.

S. Minoshima, N. Shimizu, N. Hattori, 1999, Parkinsonism & related disorders.

[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].

S. Tsuji, Y. Mizuno, H. Matsumine, 1997, Nihon rinsho. Japanese journal of clinical medicine.

Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.

M. Muramatsu, N. Kamatani, K. Inageda, 2003, Biochemical and biophysical research communications.

Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals

N. Shimizu, N. Hattori, S. Asakawa, 1998, Annals of neurology.

Immunohistochemical and subcellular localization of parkin protein: Absence of protein in autosomal recessive juvenile parkinsonism patients

S. Minoshima, N. Shimizu, N. Hattori, 1999, Annals of neurology.

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q

T. Kondo, Y. Mizuno, H. Matsumine, 1998, Neurology.

Neurochemical and Neurogenetic Correlates of Parkinson's Disease

N. Hattori, Y. Mizuno, H. Matsumine, 1998, Journal of neurochemistry.

Progress in the clinical and molecular genetics of familial parkinsonism

S. Minoshima, N. Shimizu, N. Hattori, 2000, Neurogenetics.

Polymorphism in the parkin gene in sporadic Parkinson's disease

S. Minoshima, N. Shimizu, N. Hattori, 1999, Annals of neurology.

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.

A A Schäffer, Y Mizuno, Y Yamamura, 1997, American journal of human genetics.

a Chromosome 6q-Linked Parkinsonism

S. Tsuji, Y. Mizuno, H. Matsumine, 1998 .

The Role of G-Protein-Coupled Receptor Kinase 5 in Pathogenesis of Sporadic Parkinson's Disease

T. Iwatsubo, H. Asao, M. Muramatsu, 2006, The Journal of Neuroscience.

Point Mutations (Thr240Arg and Ala311Stop) in theParkinGene

A. Brookes, S. Minoshima, N. Shimizu, 1998 .

Mn SOD activity and protein in a patient with chromosome 6-linked autosomal recessive parkinsonism in comparison with Parkinson's disease and control

M. Chiba, A. Shinohara, T. Kondo, 1997, Neurology.

Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification

N. Hattori, Y. Mizuno, S. Kuzuhara, 2000, Brain and Development.

Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism

S. Nakamura, Shigenobu Nakamura, Y. Mizuno, 1998, Neurology.

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

S. Tsuji, A. Schaffer, Y. Mizuno, 1998, Journal of Human Genetics.

Association between the gene encoding the E2 subunit of the α‐ketoglutarate dehydrogenase complex and Parkinson's disease

Y. Mizuno, H. Matsumine, Tomonori Kobayashi, 1998, Annals of neurology.

Familial Parkinson's disease. Alpha-synuclein and parkin.

S. Minoshima, N. Shimizu, N. Hattori, 2001, Advances in neurology.

[A 64-year-old woman with progressive gait disturbance and dementia for one year].

T. Kondo, Y. Mizuno, H. Matsumine, 1998, No to shinkei = Brain and nerve.