(Q34634645)

3 August 2017

1 reference

title

The nosology of the spinal muscular atrophies (English)

1 reference

3 August 2017

Emery AE

1

1 reference

PubMed ID

4948374

3 August 2017

language of work or name

English

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publication date

1 December 1971

1 reference

Journal of Medical Genetics

3 August 2017

1 reference

3 August 2017

8

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3 August 2017

481-495

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3 August 2017

4

1 reference

THE WOHLFART-KUGELBERG-WELANDER DISEASE; REVIEW OF THE LITERATURE AND REPORT OF A CASE.

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

The electrocardiogram in progressive muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Microcephaly and Mental Subnormality in Chronic Progressive Spinal Muscular Atrophy of Childhood

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Neuronal RNA metabolism in infantile spinal muscular atrophy (Werdnig-Hoffmann's disease) studied by radioautography: a new technic in the investigation of neurological disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Proximal spinal muscular atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

A distal form of chronic spinal muscular atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

The Ryukyuan muscular atrophy. An obscure heritable neuromuscular disease found in the islands of southern Japan

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Abnormal motor nerve excitability in amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Electromyography and muscle biopsy in infantile spinal muscular atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy With particular reference to the heterogeneity of Kugelberg-Welander disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Creatine phospholinase activity in spinal muscular atrophy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Course and symptoms of progressive infantile muscular atrophy; a follow-up study of 112 cases in Denmark.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

INFANTILE MUSCULAR ATROPHY. A PROSPECTIVE STUDY WITH PARTICULAR REFERENCE TO A SLOWLY PROGRESSIVE VARIETY

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Scapuloperoneal muscular atrophy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Abnormalities of the Electrocardiogram in Female Carriers of Duchenne Muscular Dystrophy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

The Neurogenic Scapulo-Peroneal Syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Spinal muscular atrophy of the scapulo-peroneal-type

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

Familial Proximal Spinal Muscular Atrophy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

HEREDITARY PROXIMAL NEUROGENIC MUSCULAR ATROPHY IN ADULT

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469097

[Neurogenic muscular atrophy of proximal and symmetrical topography simulating a myopathy. Study of 2 cases.]

26 October 2018

1 reference

12 December 2020

Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance: Kugelberg-Welander disease and its variant of late onset in one pedigree

1 reference

12 December 2020

Benign spinal muscular atrophy arising in childhood and adolescence

1 reference

12 December 2020

Infantile and juvenile spinal muscular atrophy

1 reference

12 December 2020

Neurogenic atrophy simulating facioscapulohumeral dystrophy. A dominant form

1 reference

12 December 2020

A Spinal Muscular Atrophy With Scapuloperoneal Distribution

1 reference

12 December 2020

Progressive bulbar paralysis in childhood (Fazio-Londe's disease). Report of a case with pathologic evidence of nuclear atrophy

1 reference

12 December 2020

Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia

1 reference

12 December 2020

Scapuloperoneal dystrophy and scapuloperoneal atrophy

1 reference

12 December 2020

[Pseudomyopathic progressive spinal amyotrophy of adults]

1 reference

12 December 2020

Kugelberg-Welander disease with particular reference to sex-influenced manifestations

1 reference

12 December 2020

Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy

1 reference

12 December 2020

Heritable spinal muscular atrophies

1 reference

12 December 2020

An unusual spectrum of progressive spinal muscular atrophy

1 reference

12 December 2020

Non-progressive proximal and generalized spinal muscular atrophy in siblings

1 reference

12 December 2020

Progressive Spinal Muscular Atrophy with Onset in Infancy or Early Childhood

1 reference

12 December 2020

Infantile muscular atrophy

1 reference

12 December 2020

[Forty cases of Werdnig-Hoffmann disease with eleven anatomical examinations]

1 reference

12 December 2020

Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases

1 reference

12 December 2020

Chronic proximal spinal muscular atrophy

1 reference

12 December 2020

Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy

1 reference

12 December 2020

Aminoaciduria and aminoacidemia in spinal muscular atrophy

1 reference

12 December 2020

Familial progressive bulbar‐spinal muscular atrophy

1 reference

12 December 2020

Neurogenic, familial, girdle type muscular atrophy. (Clinical, electromyographic and pathological study)

1 reference

12 December 2020

Kugelberg-Welander Syndrome (Hereditary Proximal Spinal Muscular Atrophy)

1 reference

12 December 2020

Electromyographic and histopathologic correlations in arthrogryposis

1 reference

12 December 2020

Chronic spinal muscular atrophy in adults. 1. The Kugelberg-Welander syndrome

1 reference

12 December 2020

Amyotonia congenita: a follow-up study

1 reference

12 December 2020

A family with Kugelberg-Welander sydrome. Hereditary proximal spinal muscul atrophy--some additional features

1 reference

12 December 2020

[Familial proximal muscular atrophy]

1 reference

12 December 2020

HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. BIOCHEMICAL INVESTIGATIONS

1 reference

12 December 2020

Progressive ophthalmoplegia in Kugelberg-Welander disease. Report of a case

1 reference

12 December 2020

The benign proximal spinal progressive muscular atrophies

1 reference

12 December 2020

[Chronic progressive bulbo-pontile paralysis with deafness. A clinical case]

1 reference

12 December 2020

Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease)

1 reference

12 December 2020

Increased occurrence of "sporadic" spinal progressive muscular atrophy in infancy

1 reference

12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

1 reference

12 December 2020

Chronic spinal muscular atrophy in adults. 2. Other forms

1 reference

12 December 2020

Neurogenic Muscular Atrophy Simulating Muscular Dystrophy

1 reference

12 December 2020

PSEUDOMYOPATHIC SPINAL MUSCULAR ATROPHY. HEREDITARY NEUROGENIC PROXIMAL AMYOTROPHY OF KUGELBERG AND WELANDER

1 reference

12 December 2020

Postmortem findings in a case of Wohlfart-Kugelberg-Welander disease

1 reference

12 December 2020

Kugelberg-welander syndrome with dominant inheritance

1 reference

12 December 2020

Intermediate forms of infantile spinal amyotrophy (6 recent cases)

1 reference

12 December 2020

[Kugelberg-Welander neurogenic pseudomyopathy]

1 reference

12 December 2020

Infantile Progressive Spinal Muscular Atrophy in Identical Negro Twins

1 reference

12 December 2020

A new genetic variant of spinal muscular atrophy

1 reference

12 December 2020

Muscle Target Fibres, a Newly Recognized Sign of Denervation

1 reference

12 December 2020

The cardiomyopathy of progressive muscular dystrophy

1 reference

12 December 2020

The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. An electrocardiographic-pathologic correlative study

1 reference

12 December 2020

Electrocardiographic patterns in the differential diagnosis of progressive muscular dystrophy

1 reference

12 December 2020

PSEUDOMYOPATHIC FAMILIAL NEUROGENIC AMYOTROPHY IN ADOLESCENCE

1 reference

12 December 2020

[Apropos of heredofamilial juvenile muscular atrophy.]

1 reference

12 December 2020

"Myopathic" Changes in Chronically Denervated Muscle

1 reference

12 December 2020

Identifiers

PMCID

1469097

1 reference

3 August 2017

1 reference

PubMed ID

4948374