Genetics and diseases of muscle

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

1961 • 3,881 citations

Sickle Cell Anemia, a Molecular Disease

1949 • 2,216 citations

Sex chromatin and gene action in the mammalian X-chromosome.

1962 • 1,003 citations

MYOPATHY DUE TO A DEFECT IN MUSCLE GLYCOGEN BREAKDOWN

1951 • 593 citations

ON THE CLASSIFICATION, NATURAL HISTORY AND TREATMENT OF THE MYOPATHIES

1954 • 532 citations

THE NORMAL HUMAN FEMALE AS A MOSAIC OF X-CHROMOSOME ACTIVITY: STUDIES USING THE GENE FOR G-6-PD-DEFICIENCY AS A MARKER

1962 • 503 citations

McARDLE'S SYNDROME

1962 • 391 citations

The Metabolic Basis of Inherited Disease.

1961 • 371 citations

CHRONIC PROGRESSIVE MYOPATHY WITH MYOGLOBINURIA: DEMONSTRATION OF A GLYCOGENOLYTIC DEFECT IN THE MUSCLE*

1959 • 308 citations

Serum Creatine Phosphokinase

1961 • 288 citations

Alkaline Phosphatase in Human Sera and Placentae

1961 • 272 citations

THE PROBLEM OF ANTICIPATION IN PEDIGREES OF DYSTROPHIA MYOTONICA

1947 • 259 citations

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE

1959 • 221 citations

ELECTROPHORETIC HETEROGENEITY OF GLUCOSE-6-PHOSPHATE DEHYDROGEN ASE AND ITS RELATIONSHIP TO ENZYME DEFICIENCY IN MAN

1962 • 202 citations

Trail Marking Substance of the Texas Leaf-Cutting Ant: Source and Potency

1963 • 192 citations

Studies in disorders of muscle

1959 • 186 citations

Formal genetics of muscular dystrophy.

1959 • 183 citations

High Creatine Phosphokinase Activity of Sera with Progressive Muscular Dystrophy

1959 • 174 citations

CHEMICAL STUDIES OF SEVERAL VARIETIES OF HB M

1961 • 170 citations

Adynamia Episodica Hereditaria

1956 • 129 citations

ON THE INHERITANCE OF MUSCULAR DYSTROPHY

1955 • 125 citations

Adynamia episodica hereditaria

1957 • 123 citations

Aldolase in the Serum and Tissues of Tumor-Bearing Animals<xref ref-type="fn" rid="fn1"><sup>2</sup></xref>

1949 • 116 citations

STUDIES IN DISORDERS OF MUSCLE. VII. CLINICAL MANIFESTATIONS AND INHERITANCE OF A TYPE OF PERIODIC PARALYSIS WITHOUT HYPOPOTASSEMIA 1

1951 • 110 citations

Allelomorphism and the Chemical Differences of the Human Hæmoglobins A, S and C

1958 • 107 citations

Survival in X‐chromosomal muscular dystrophy

1961 • 100 citations

Hereditary Absence of Muscle Phosphorylase (McArdle's Syndrome)

1961 • 99 citations

Serum enzymes and genetic carriers in muscular dystrophy.

1960 • 97 citations

A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride

1961 • 92 citations

PERIODIC PARALYSIS

1941 • 91 citations

Progressive Muscular Dystrophy

1961 • 90 citations

The Effects of Mutation on the Composition and Properties of the A Protein of Escherichia coli Tryptophan Synthetase

1961 • 89 citations

X-CHROMOSOME MOSAICISM IN FEMALES WITH MUSCULAR DYSTROPHY

1963 • 89 citations

THE INHERITANCE OF MUSCULAR DYSTROPHY: FURTHER OBSERVATIONS

1956 • 86 citations

Discrimination of genetic entities in muscular dystrophy.

1959 • 79 citations

CLINICAL MANIFESTATIONS IN TWO CARRIERS OF DUCHENNE MUSCULAR DYSTROPHY

1963 • 78 citations

MUSCULAR DYSTROPHY IN CHILDHOOD. THE GENETIC ASPECT

1958 • 76 citations

Progressive Muscular Dystrophy. V. The Identification of the Carrier State in the Duchenne Type by Serum Creatine Kinase Determination.

1963 • 74 citations

Periodic Paralysis, a Clinical Syndrome.

1942 • 69 citations

CLINICAL, GENETIC AND ELECTROCARDIOGRAPHIC STUDIES IN CHILDHOOD MUSCULAR DYSTROPHY

1961 • 67 citations

MUSCULAR DYSTROPHY IN NORTHERN IRELAND

1958 • 67 citations

MUSCULAR DYSTROPHY IN NORTHERN IRELAND I. AN ACCOUNT OF THE CONDITION IN FIFTY-ONE FAMILIES

1952 • 66 citations

ACUTE RECURRENT RHABDOMYOLYSIS (PAROXYSMAL MYOHAEMOGLOBINURIA)

1956 • 66 citations

Serum Enzymes in Carriers of Muscular Dystrophy

1962 • 65 citations

CORRESPONDENCE BETWEEN GENETIC DATA AND THE POSITION OF AMINO ACID ALTERATION IN A PROTEIN

1962 • 63 citations

Progressive muscular dystrophy: autosomal recessive type.

1961 • 62 citations

Ciba Foundation Symposium ‐ Biochemistry of Human Genetics

1959 • 62 citations

Paramyotonia Congenita

1958 • 61 citations

NAIL‐PATELLA SYNDROME: EVIDENCE FOR MODIFICATION BY ALLELES AT THE MAIN LOCUS

1956 • 60 citations

Familial Hyperkalemic Paralysis with Myotonia

1961 • 51 citations

THE MIGRAINOUS PATIENT

1934 • 49 citations

AUTOSOMAL RECESSIVE INHERITANCE OF DUCHENNE‐TYPE MUSCULAR DYSTROPHY

1957 • 47 citations

PROGRESSIVE MUSCULAR DYSTROPHY: AUTOSOMAL RECESSIVE TYPE

1961 • 46 citations

THE PROPERTIES OF ALTERED PROTEINS FROM MUTANTS BEARING ONE OR TWO LESIONS IN THE SAME GENE

1961 • 44 citations

Paroxysmal Paralytic Hemoglobinuria

1944 • 43 citations

MUSCULAR DYSTROPHY ASSOCIATED WITH PAROXYSMAL MYOGLOBINURIA AND EXCESSIVE EXCRETION OF KETOSTEROIDS

1953 • 40 citations

Studies on Human Myoglobin

1955 • 39 citations

MYOTONIA CONGENITA, DYSTROPHIA MYOTONICA AND PARAMYOTONIA; REAFFIRMATION OF THEIR IDENTITY

1950 • 39 citations

Studies on Human Myoglobin

1955 • 39 citations

Abnormal Spectrophotometric Absorption Spectrums of Myoglobin in Two Forms of Progressive Muscular Dystrophy

1961 • 32 citations

COLOUR BLINDNESS and THE DUCHENNE‐TYPE MUSCULAR DYSTROPHY

1956 • 31 citations

PERIODIC PARALYSIS SODIUM METABOLISM AND ALDOSTERONE OUTPUT IN TWO CASES

1959 • 30 citations

PAROXYSMAL MYOGLOBINURIA

1955 • 30 citations

FAMILIAL MYOTONIC PERIODIC PARALYSIS

1962 • 29 citations

MUSCULAR DYSTROPHY IN NORTHERN IRELAND*

1955 • 28 citations

SPONTANEOUS MYOHEMOGLOBINURIA IN MAN

1948 • 28 citations

Further observations on the determination of the isoniazid inactivator phenotype.

1961 • 28 citations

A Study of Paramyotonia Congenita

1963 • 27 citations

STUDIES IN DISORDERS OF MUSCLE. IV. THE CLINICAL MANIFESTATIONS AND INHERITANCE OF CHILDHOOD PROGRESSIVE MUSCULAR DYSTROPHY

1951 • 26 citations

On Pseudohypertrophic and Allied Types of Progressive Muscular Dystrophy

1943 • 25 citations

Ciba Foundation Symposium on Biochemistry of Human Genetics.

1960 • 23 citations

Myoglobinuria in man; with special reference to a familial form.

1955 • 23 citations

THE INHERITANCE OF MUSCULAR DYSTROPHY

1957 • 22 citations

Electxophoretic Properties of Myoglobin and its Character in Sickle‐Cell Diseases and Paroxysmal Myoglobinuria

1956 • 22 citations

Evidence for the absence of detectable linkage between the genes for Duchenne muscular dystrophy and the Xg blood group.

1963 • 22 citations

A POSSIBLE SUPERNUMERARY CHROMOSOME ASSOCIATED WITH DYSTROPHIA MYOTONICA

1962 • 18 citations

Idiopathic recurrent rhabdomyolysis with myoglobinuria

1963 • 17 citations

Fœtal Myoglobin in the Urine of an Adult

1963 • 14 citations

FAMILIAL MYOTONIC PERIODIC PARALYSIS

1963 • 13 citations

Idiopathic Paroxysmal Myoglobinuria

1961 • 12 citations

Myoglobin in the Human Fœtus

1962 • 11 citations

Relationship of dystrophia myotonica (myotonic dystrophy) and myotonia congenita (Thomsen's disease)

1958 • 11 citations

HEREDITARY PERIODIC PARALYSIS IN A FAMILY SHOWING VARIED MANIFESTATIONS

1944 • 10 citations

PAROXYSMAL HEMOGLOBINURIA

1912 • 4 citations

CARRIER DETECTION IN MUSCULAR DYSTROPHY

1962 • 3 citations

Erblichkeitsuntersuchungen bei paroxysmaler Lähmung

1942 • 2 citations