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Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

American journal of human genetics, 1996-04, Vol.58 (4), p.703-711

1996

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Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities

Cytogenetic and genome research, 1999-01, Vol.86 (2), p.153-156

Went, L N

1999

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Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin

American journal of human genetics, 1992-03, Vol.50 (3), p.498-507

1992

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Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy

Journal of the neurological sciences, 1988-07, Vol.85 (3), p.267-280

1988

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Genetic aspects of erythropoietic protoporphyria

Annals of human genetics, 1984-05, Vol.48 (2), p.105-117

1984

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Hereditary spastic dystonia: A new mitochondrial encephalopathy?: Putaminal necrosis as a diagnostic sign

Journal of the neurological sciences, 1991-06, Vol.103 (2), p.195-202

1991

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Clinical and genetic studies in six Dutch kindreds with the Dysplastic Naevus Syndrome

Annals of human genetics, 1986-07, Vol.50 (3), p.249-258

1986

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Oculomotor defects in patients with Huntington's disease and their offspring

Journal of the neurological sciences, 1988-09, Vol.86 (2), p.307-320

1988

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The genetics of tritan disturbances

Human genetics, 1985-01, Vol.69 (3), p.255-262

1985

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Hereditary spastic dystonia with Leber's hereditary optic neuropathy: Neuropathological findings

Journal of the neurological sciences, 1992-11, Vol.113 (1), p.55-61

1992

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Ocular melanoma in families with dysplastic nevus syndrome

Journal of the American Academy of Dermatology, 1990-11, Vol.23 (5), p.858-862

1990

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X linked progressive cone dystrophy with specific attention to carrier detection

Journal of medical genetics, 1992-05, Vol.29 (5), p.291-294

1992

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Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene

Journal of medical genetics, 1991-04, Vol.28 (4), p.252-255

1991

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Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage

Journal of the neurological sciences, 1982-08, Vol.55 (2), p.121-135

1982

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Further evidence for localization of the gene of erythrokeratodermia variabilis

Human genetics, 1988-09, Vol.80 (1), p.97-98

1988

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Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment

American journal of human genetics, 1992-08, Vol.51 (2), p.444-446

1992

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Late onset dominant cone dystrophy with early blue cone involvement

Journal of medical genetics, 1992-05, Vol.29 (5), p.295-298

1992

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Studies on Leber's optic neuropathy III

Documenta ophthalmologica, 1989, Vol.71 (1), p.77-87

1989

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Dominant cone dystrophy starting with blue cone involvement

British journal of ophthalmology, 1991-06, Vol.75 (6), p.332-336

1991

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PARENTAL TRANSMISSION IN HUNTINGTON'S DISEASE

The Lancet (British edition), 1984-05, Vol.323 (8386), p.1100-1102

1984

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Tumour spectrum in the FAMMM syndrome

British journal of cancer, 1981-10, Vol.44 (4), p.553-560

1981

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Genetic linkage between erythrokeratodermia variabilis and Rh locus

Human genetics, 1984-11, Vol.68 (2), p.165-168

1984

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Primary choroidal and cutaneous melanomas, bilateral choroidal melanomas, and familial occurrence of melanomas

British journal of ophthalmology, 1982-04, Vol.66 (4), p.230-233

1982

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Abnormal Hemoglobins Caused by Deletions: A Review

Hemoglobin, 1979, Vol.3 (2-3), p.117-136

Went, L. N.

1979

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Incidence of Abnormal Hæmoglobins in Jamaica

Nature (London), 1957-11, Vol.180 (4595), p.1131-1132

WENT, L. N

1957

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Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities

Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin

Hereditary cerebral haemorrhage caused by cortical amyloid angiopathy

Genetic aspects of erythropoietic protoporphyria

Hereditary spastic dystonia: A new mitochondrial encephalopathy?: Putaminal necrosis as a diagnostic sign

Clinical and genetic studies in six Dutch kindreds with the Dysplastic Naevus Syndrome

Oculomotor defects in patients with Huntington's disease and their offspring

The genetics of tritan disturbances

Hereditary spastic dystonia with Leber's hereditary optic neuropathy: Neuropathological findings

Ocular melanoma in families with dysplastic nevus syndrome

X linked progressive cone dystrophy with specific attention to carrier detection

Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene

Familial cerebral amyloid angiopathy presenting as recurrent cerebral haemorrhage

Further evidence for localization of the gene of erythrokeratodermia variabilis

Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment

Late onset dominant cone dystrophy with early blue cone involvement

Studies on Leber's optic neuropathy III

Dominant cone dystrophy starting with blue cone involvement

PARENTAL TRANSMISSION IN HUNTINGTON'S DISEASE

Tumour spectrum in the FAMMM syndrome

Genetic linkage between erythrokeratodermia variabilis and Rh locus

Primary choroidal and cutaneous melanomas, bilateral choroidal melanomas, and familial occurrence of melanomas

Abnormal Hemoglobins Caused by Deletions: A Review

Incidence of Abnormal Hæmoglobins in Jamaica

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