The Genetics of Muscular Dystrophy

A CASE OF SEVERE HYPERMETABOLISM OF NONTHYROID ORIGIN WITH A DEFECT IN THE MAINTENANCE OF MITOCHONDRIAL RESPIRATORY CONTROL: A CORRELATED CLINICAL, BIOCHEMICAL, AND MORPHOLOGICAL STUDY

1962 • 943 citations

ON THE CLASSIFICATION, NATURAL HISTORY AND TREATMENT OF THE MYOPATHIES

1954 • 532 citations

NEMALINE MYOPATHY

1963 • 463 citations

Creatine and Creatine Kinase Measurement

1959 • 429 citations

A NEW CONGENITAL NON-PROGRESSIVE MYOPATHY

1956 • 418 citations

Unusual type of benign x-linked muscular dystrophy.

1966 • 397 citations

ADENOSINETRIPHOSPHATE-CREATINE TRANSPHOSPHORYLASE

1954 • 396 citations

Oculopharyngeal Muscular Dystrophy

1962 • 281 citations

THE PROBLEM OF ANTICIPATION IN PEDIGREES OF DYSTROPHIA MYOTONICA

1947 • 259 citations

PROGRESSIVE DYSTROPHY OF THE EXTERNAL OCULAR MUSCLES

1951 • 200 citations

Muscular Dystrophy in Man and Animals

1964 • 195 citations

Formal genetics of muscular dystrophy.

1959 • 183 citations

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

1876 • 176 citations

Dystrophia Myotonica in Childhood

1960 • 162 citations

ARTHROGRYPOSIS MULTIPLEX DUE TO CONGENITAL MUSCULAR DYSTROPHY

1957 • 146 citations

Serum-Kreatin-Phosphokinase: Bestimmung und diagnostische Bedeutung

1962 • 141 citations

On the X Chromosome of Man

1962 • 138 citations

ON AMYOTONIA CONGENITA

1949 • 137 citations

PROGRESSIVE VAGUS-GLOSSOPHARYNGEAL PARALYSIS WITH PTOSIS. A CONTRIBUTION TO THE GROUP OF FAMILY, DISEASES

1915 • 130 citations

ON THE INHERITANCE OF MUSCULAR DYSTROPHY

1955 • 125 citations

Congenital nonprogressive myopathy

1965 • 123 citations

STUDIES IN DISORDERS OF MUSCLE. II. CLINICAL MANIFESTATIONS AND INHERITANCE OF FACIOSCAPULOHUMERAL DYSTROPHY IN A LARGE FAMILY

1950 • 120 citations

THE PROGNOSTIC VALUE OF THE MUSCLE BIOPSY IN THE “FLOPPY INFANT”

1958 • 116 citations

Some properties of creatine phosphokinase

1954 • 115 citations

Diseases of the Nervous System in Infancy, Childhood and Adolescence

1961 • 109 citations

CYSTEINE-STIMULATED SERUM CREATINE KINASE IN HEALTH AND DISEASE.

1964 • 109 citations

CENTRAL CORE DISEASE—AN INVESTIGATION OF A RARE MUSCLE CELL ABNORMALITY

1961 • 108 citations

ADYNAMIA EPISODICA HEREDITARIA AND ITS TREATMENT

1962 • 104 citations

MYOTONIC DYSTROPHY IN INFANCY AND CHILDHOOD

1965 • 104 citations

OXIDATIVE ENZYMES AND PHOSPHORYLASE IN CENTRAL-CORE DISEASE OF MUSCLE

1960 • 104 citations

Diseases of Muscle: A Study in Pathology

1963 • 102 citations

Human Myopathy with Giant Abnormal Mitochondria

1964 • 101 citations

ARTHROGRYPOSIS MULTIPLEX CONGENITA

1923 • 98 citations

Serum Enzymes in Muscular Dystrophy and Certain Other Muscular and Neuromuscular Diseases

1957 • 98 citations

Serum enzymes and genetic carriers in muscular dystrophy.

1960 • 97 citations

Serum enzyme studies in muscle disease: Part III Serum creatine kinase activity in relatives of patients with the Duchenne type of muscular dystrophy

1964 • 97 citations

AMYOTONIA CONGENITA

1956 • 96 citations

FREQUENCY OF SPONTANEOUS MUTATIONS IN CERTAIN STOCKS OF DROSOPHILA MELANOGASTER

1937 • 96 citations

INTELLECTUAL FUNCTION IN CHILDHOOD PROGRESSIVE MUSCULAR DYSTROPHY

1962 • 91 citations

Über myotonische Dystrophie mit Katarakt

1918 • 89 citations

X-CHROMOSOME MOSAICISM IN FEMALES WITH MUSCULAR DYSTROPHY

1963 • 89 citations

The Excretion of Inorganic Phosphorus in Children after the Administration of Glucose

1951 • 89 citations

Serum enzyme studies in muscle disease: Part II Serum creatine kinase activity in muscular dystrophy and in other myopathic and neuropathic disorders

1964 • 88 citations

Intellectual Impairment in Muscular Dystrophy

1965 • 87 citations

THE INHERITANCE OF MUSCULAR DYSTROPHY: FURTHER OBSERVATIONS

1956 • 86 citations

Discrimination of genetic entities in muscular dystrophy.

1959 • 79 citations

Muscle Histology in Carriers of Duchenne Muscular Dystrophy

1965 • 79 citations

Smooth muscle involvement in myotonic dystrophy

1965 • 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

Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome

1965 • 71 citations

Enzymic activity of normal and dystrophic human muscle: A histochemical study

1961 • 71 citations

Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees.

1951 • 70 citations

Creatine Kinase Levels in Women who Carry Genes for Three Types of Muscular Dystrophy

1965 • 68 citations

CLINICAL, GENETIC AND ELECTROCARDIOGRAPHIC STUDIES IN CHILDHOOD MUSCULAR DYSTROPHY

1961 • 67 citations

Mental Retardation in Association with Progressive Muscular Dystrophy

1960 • 67 citations

HEREDITARY NON-PROGRESSIVE MUSCULAR DYSTROPHY INDUCING ARTHROGRYPOSIS SYNDROME

1963 • 67 citations

NEMALINE MYOPATHY A LONG-TERM CLINICOPATHOLOGIC STUDY OF AFFECTED MOTHER AND DAUGHTER

1966 • 66 citations

Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds.

1951 • 65 citations

Progressive Muscular Dystrophy With Ptosis and Dysphagia

1964 • 63 citations

Progressive muscular dystrophy: autosomal recessive type.

1961 • 62 citations

Ocular myopathy with dysphagia

1965 • 62 citations

Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy.

1951 • 61 citations

Paramyotonia Congenita

1958 • 61 citations

Electrophoretic Pattern of Lactic Dehydrogenase in Carriers and Patients with Duchenne Muscular Dystrophy

1964 • 59 citations

The Carrier State in Muscular Dystrophy of the Duchenne Type

1965 • 58 citations

Fermentaktivit�tsbestimmungen in der gesunden menschlichen Muskulatur und bei Myopathien

1963 • 57 citations

PROGRESSIVE MUSCULAR DYSTROPHY OF THE DUCHENNE TYPE IN FEMALES AND ITS MODE OF INHERITANCE

1960 • 56 citations

"THE LIMP CHILD"

1957 • 54 citations

X-Linked Pseudohypertrophic Muscular Dystrophy with a Late Onset and Slow Progression

1965 • 53 citations

DYSTROPHIA MYOTONICA WITH SPECIAL REFERENCE TO NORTHERN IRELAND

1957 • 52 citations

THE MIGRAINOUS PATIENT

1934 • 49 citations

THE DUCHENNE TYPE MUSCULAR DYSTROPHY: HISTOPATHOLOGICAL STUDIES OF THE CARRIER STATE

1966 • 49 citations

Hereditary Occurrence of Nemaline Myopathy

1965 • 49 citations

Recent Advances in Human Genetics

1962 • 48 citations

THE DIAGNOSTIC VALUE OF SERUM CREATINE KINASE IN NEUROMUSCULAR AND MUSCULAR DISEASE

1965 • 47 citations

REFRACTORY PERIOD OF MUSCLE AND ELECTROMYOGRAPHIC FINDINGS IN RELATIVES OF PATIENTS WITH MUSCULAR DYSTROPHY

1965 • 47 citations

PROGRESSIVE MUSCULAR DYSTROPHY: AUTOSOMAL RECESSIVE TYPE

1961 • 46 citations

Muscular Dystrophy

1964 • 46 citations

Muscular Dystrophy: Some Recent Advances in Knowledge

1964 • 45 citations

Scuba

1963 • 45 citations

The carrier state in muscular dystrophy of the Duchenne type

1965 • 45 citations

THE RELATIONSHIP BETWEEN AMYOTONIA CONGENITA AND CONGENITAL MYOPATHY

1940 • 44 citations

STUDIES OF ENZYMES IN SERUM IN MUSCULAR DYSTROPHY

1961 • 44 citations

Serum enzyme variations and histological abnormalities in the carrier state in Duchenne dystrophy

1965 • 44 citations

Dystrophia Myotonica and Related Disorders.

1964 • 44 citations

Fermentaktivit�tsbestimmungen in der gesunden menschlichen Muskulatur und bei Myopathien

1963 • 42 citations

A Case of Congenital Defect of the Muscular System (Dystrophia Muscularis Congenita) and its Association with Congenital Talipes Equino-Varus

1908 • 42 citations

Muscular Dystrophy: Some Recent Advances in Knowledge

1964 • 42 citations

Osseous Changes in Myopathy

1954 • 40 citations

Disorders of Voluntary Muscle

1965 • 40 citations

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

1950 • 39 citations

Hereditary Distal Myopathy With Onset in Infancy

1965 • 39 citations

THE VALUE OF SERUM ENZYME DETERMINATIONS IN THE IDENTIFICATION OF DYSTROPHIC CARRIERS

1966 • 38 citations

NEUE ERGEBNISSE DER GENETIK DER MUSKELDYSTROPHIEN

1957 • 38 citations

A STUDY OF A CASE OF HIGH MUTATION RATE IN DROSOPHILA MELANOGASTER

1942 • 37 citations

ADYNAMIA EPISODICA HEREDITARIA AND MYOTONIA

1963 • 36 citations

Myotonic Muscular Dystrophy

1964 • 36 citations

A VARIETY OF PARAMYOTONIA CONGENITA

1957 • 36 citations

HOMOZYGOUS APPEARANCE OF DISTAL MYOPATHY

1957 • 34 citations

DYSTROPHIA MYOTONICA, PARAMYOTONIA AND MYOTONIA CONGENITA

1957 • 34 citations

Congenital muscular dystrophy: A case report with autopsy findings

1963 • 34 citations

[PROGRESSIVE MUSCULAR DYSTROPHY. VI. INCIDENCE, CLINICAL ASPECTS AND GENETICS OF THE DUCHENNE TYPE].

1964 • 34 citations

Carrier detection in sex-linked muscular dystrophy.

1965 • 32 citations

COLOUR BLINDNESS and THE DUCHENNE‐TYPE MUSCULAR DYSTROPHY

1956 • 31 citations

Klinische und biochemische Untersuchungen bei Myopathien

1965 • 31 citations

Duchenne's Muscular Dystrophy and the Xg Blood Groups: a Search for Linkage

1965 • 30 citations

FAMILIAL MYOTONIC PERIODIC PARALYSIS

1962 • 29 citations

Ueber isolirte doppelseitige Ptosis

1890 • 28 citations

MUSCULAR DYSTROPHY IN NORTHERN IRELAND*

1955 • 28 citations

Dystrophia musculorum progressiva: Eine genetische und klinische Untersuchung der Muskeldystrophien

1954 • 28 citations

DESCENDING OCULAR MYOPATHY

1962 • 28 citations

Serum creatine phosphokinase and aldolase activity in neuromuscular disorders.

1959 • 28 citations

TWO CASES OF MYOPATHY LIMITED TO THE QUADRICEPS

1956 • 27 citations

CONGENITAL MYOPATHY—A FIFTY-YEAR FOLLOW-UP

1962 • 27 citations

Myopathic Changes in Muscular Dystrophy Carriers

1963 • 26 citations

Chemotherapy of Tuberculosis

1968 • 26 citations

14 Hereditary Myopathies

1964 • 25 citations

Muscular dystrophy in infancy

1962 • 25 citations

On Pseudohypertrophic and Allied Types of Progressive Muscular Dystrophy

1943 • 25 citations

Progressive Muskeldystrophie VII. Die Erfassung von Heterozygoten der Duchenne-Muskeldystrophie durch Messung der Serum-Kreatin-Kinase unter lokalisierter Arbeitsbelastung in Anoxie

1965 • 24 citations

Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy.

1966 • 24 citations

STUDIES IN DISEASES OF MUSCLE

1943 • 22 citations

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

1963 • 22 citations

THE INHERITANCE OF MUSCULAR DYSTROPHY

1957 • 22 citations

Amyoplasia congenita

1946 • 22 citations

Dystrophia Musculorum Progressiva: Clinical and Diagnostic Criteria, Inheritance.

1953 • 21 citations

Severe Muscular Dystrophy in Girls

1964 • 21 citations

Genetics and diseases of muscle

1963 • 20 citations

Taking the family history

1963 • 20 citations

AN UNUSUAL VARIETY OF MUSCULAR DYSTROPHY

1965 • 19 citations

Zur Frage der Heredität der Pseudohypertrophie Duchenne

1934 • 17 citations

AUTOSOMAL RECESSIVE INHERITANCE OF DUCHENNE-TYPE MUSCULAR DYSTROPHY

1957 • 17 citations

AN UNUSUAL VARIETY OF MUSCULAR DYSTROPHY

1965 • 16 citations

PROGRESSIVE NEUROLOGICAL DISORDER AND MYOTONIA CONGENITA ASSOCIATED WITH PARAMYOTONIA

1963 • 16 citations

Über den isolierten Befall des M. Quadriceps femoris bei der Dystrophia musculorum progressiva

1958 • 15 citations

CONGENITAL GENERALIZED MUSCULAR ATROPHIES

1958 • 15 citations

Arthrogryposis multiplex congenita

1965 • 15 citations

Myotonic dystrophy and polycystic disease of the kidneys.

1967 • 15 citations

MYATONIA CONGENITA: A REPORT OF A CASE WITH AUTOPSY

1911 • 14 citations

CONGENITAL MALFORMATIONS IN MYOTONIC DYSTROPHY

1965 • 14 citations

Consanguinity in a midwestern United States isolate.

1958 • 14 citations

Die Tuberkulinempfindlichkeit bei verschiedenen Formen von Kindertuberkulose.

1937 • 14 citations

Oculopharyngeal Muscular Dystrophy

1963 • 13 citations

Kreatinphosphokinase (CPK) im Serum bei myotonischer Dystrophie

1962 • 13 citations

FAMILIAL MYOTONIC PERIODIC PARALYSIS

1963 • 13 citations

Chromosome and sex chromatin studies in cases of dystrophia myotonica.

1962 • 12 citations

A PEDIGREE OF HEREDITARY PROGRESSIVE MUSCULAR DYSTROPHY

1949 • 11 citations

Zur Genetik der Myopathien

1955 • 11 citations

Limb Blood Flow in Patients and Carriers of Duchenne Muscular Dystrophy

1965 • 10 citations

MUSCULAR INFANTILISM

1921 • 10 citations

Familial Aspects of Radiologic Changes in Dystrophia Myotonica

1963 • 9 citations

Muscular dystrophy in Northern Ireland

1963 • 9 citations

Étude d'un Couple de Jumeaux Monozygotes dont un seul est atteint de Myopathie (Forme Pseudo-Hypertrophique)

1963 • 9 citations

CHROMOSOMES IN DYSTROPHIA MYOTONICA

1965 • 9 citations

DYSTROPHIA MYOTONICA AND THE OCCURRENCE OF CONGENITAL PHYSICAL DEFECT IN AFFECTED FAMILIES

1954 • 9 citations

Studies on Prenatal Lesions of Striated Muscle as a Cause of Congenital Deformity: I.-Congenital Tibial Kyphosis. II.-Congenital High Shoulder. III.-Myodystrophia Fœtalis Deformans.

1934 • 8 citations

Some problems in genetics of muscular dystrophy.

1962 • 7 citations

MANIFESTATIONS IN CARRIERS OF X-LINKED MUSCULAR DYSTROPHY

1964 • 7 citations

[Myotonic dystrophy and cranial hyperostosis].

1950 • 7 citations

An infantile muscular dystrophy. Report of a case with autopsy findings.

1962 • 7 citations

Progressive Muscular Dystrophy

1964 • 7 citations

CHROMOSOMES IN DYSTROPHIA MYOTONICA

1965 • 7 citations

Myotonia congenita und Dystrophia myotonica

1966 • 6 citations

Ocular Myopathy* *From the Departments of Ophthalmology and Neurology, Mt. Sinai Hospital of Cleveland.

1965 • 2 citations

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