CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

1981 • 903 citations

Xeroderma Pigmentosum

1974 • 755 citations

Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy

1968 • 403 citations

THE CLINICAL FEATURES AND CLASSIFICATION OF THE LATE ONSET AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS

1982 • 402 citations

HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURES

1956 • 402 citations

Autosomal dominant system degeneration in Portuguese families of the Azores Islands

1978 • 294 citations

OBSERVATIONS ON ESSENTIAL (HEREDOFAMILIAL) TREMOR

1949 • 290 citations

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

1981 • 281 citations

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

1978 • 271 citations

THE OLIVOPONTOCEREBELLAR ATROPHIES

1970 • 267 citations

The Spino-Cerebellar Degenerations

1955 • 235 citations

The Spino‐Cerebellar Degenerations

1955 • 224 citations

Ueber degenerative Atrophie der spinalen Hinterstränge

1863 • 211 citations

DYSSYNERGIA CEREBELLARIS MYOCLONICA—PRIMARY ATROPHY OF THE DENTATE SYSTEM: A CONTRIBUTION TO THE PATHOLOGY AND SYMPTOMATOLOGY OF THE CEREBELLUM

1922 • 191 citations

HEREDITARY ATAXIA

1950 • 172 citations

Ueber degenerative Atrophie der spinalen Hinterstränge

1863 • 169 citations

‘Idiopathic’ late onset cerebellar ataxia

1981 • 136 citations

Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.

1957 • 136 citations

The Troyer Syndrome

1967 • 116 citations

Intermittent Branched-Chain Ketonuria

1967 • 113 citations

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.

1981 • 111 citations

Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome

1980 • 111 citations

The Genetics of Neurological Disorders

1967 • 107 citations

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

1971 • 102 citations

Chronic GM ₂ gangliosidosis masquerading as atypical Friedreich ataxia

1981 • 102 citations

Familial Lipoprotein Deficiency

1978 • 95 citations

A sex-linked recessive form of spastic paraplegia.

1962 • 95 citations

Cockayne syndrome: Unusual neuropathological findings and review of the literature

1979 • 93 citations

AN ATTEMPT TO CLASSIFY CEREBELLAR DISEASE, WITH A NOTE ON MARIE'S HEREDITARY CEREBELLAR ATAXIA

1908 • 84 citations

A family with hereditary ataxia

1980 • 84 citations

Oligophrenia in Combination with Congenital Ichthyosis and Spastic Disorders: A Clinical and Genetic Study

1958 • 77 citations

Ueber degenerative Atrophie der spinalen Hinterstränge

1863 • 69 citations

Strumpell's pure familial spastic paraplegia: case study and review of the literature.

1977 • 65 citations

Familial Spastic Paraplegia with Amyotrophy, Oligophrenia, and Central Retinal Degeneration

1959 • 63 citations

Hereditary Olivopontocerebellar Atrophy With Retinal Degeneration

1967 • 57 citations

The genetics of neurological disorders

1968 • 56 citations

Hereditary ataxia: a pathologic study of five cases of common ancestry.

1951 • 55 citations

The Mast Syndrome

1967 • 50 citations

Hereditary spastic paraplegia in Western Norway

1974 • 46 citations

HEREDITARY SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA

1979 • 46 citations

Familial spastic paraplegia with amyotrophy of the hands

1966 • 46 citations

Familial Myoclonus, Cerebellar Ataxia, and Deafness

1968 • 40 citations

MARINESCO-SJÖGREN SYNDROME REPORT OF AN AUTOPSY

1972 • 35 citations

A SPINOCEREBELLAR DEGENERATION WITH X-LINKED INHERITANCE

1979 • 35 citations

Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.

1980 • 33 citations

Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

1978 • 33 citations

Two kindreds with a sex-linked recessive form of spastic paraplegia.

1971 • 30 citations

Hereditary late‐onset cerebellar degeneration

1971 • 28 citations

Behr syndrome

1979 • 27 citations

Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation

1981 • 26 citations

FAMILIAL ATAXIA, DEAF-MUTISM, AND MUSCULAR WASTING

1950 • 24 citations

DYSSYNERGIA CEREBELLARIS MYOCLONICA, PRIMARY ATROPHY OF THE DENTATE SYSTEM

1922 • 22 citations

FAMILIAL AMYOTROPHIC DYSTONIC PARAPLEGIA

1964 • 22 citations

Familial spastic ataxia

1977 • 21 citations

A New Familial Syndrome With Ataxia, Hearing Loss, and Mental Retardation

1973 • 21 citations

Cerebellar ataxia and hypogonadism

1990 • 18 citations

Familial Cerebrotendinous Xanthomatosis

1975 • 18 citations

Hereditary Spastic Paraparesis with Sensory Neuropathy

1970 • 14 citations

Quebec Cooperative Study on Friedreich's Ataxia — Phase One

1976 • 9 citations

Quebec Cooperative Study of Friedreich’s Ataxia

1982 • 8 citations

Ataxia telangiectasia

2011 • 7 citations

Hereditary cerebellar ataxia, mental deficiency, pyramidal involvement and macular pigmentation

1964 • 6 citations

Quebec Cooperative Study of Friedreich's Ataxia. Phase Two — Etiological Investigations — Part One — Clinical and Biochemical Studies

1978 • 5 citations

Juvenile amyotrophic lateral sclerosis in two brothers from an inbred community.

1971 • 5 citations

Quebec Cooperative Study of Friedreich's Ataxia

1979 • 5 citations

Observations in a family with dominant type of cerebellar ataxia.

1972 • 2 citations