(Q40718973)

23 September 2017

1 reference

title

Genetic disorders that masquerade as multiple sclerosis (English)

1 reference

23 September 2017

Natowicz MR

1

1 reference

23 September 2017

Bejjani B

series ordinal

2

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23 September 2017

publication date

1 January 1994

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American Journal of Medical Genetics Part A

23 September 2017

published in

1 reference

23 September 2017

volume

49

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23 September 2017

issue

2

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23 September 2017

page(s)

149-169

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Adrenergic dysfunction in hereditary adult-onset leukodystrophy.

23 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

the central nervous system in Fabry's disease. A clinical, pathological, and biochemical investigation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

MELAS syndrome involving a mother and two children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Neuro-ophthalmologic findings in vestibulocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Metachromatic leukodystrophy in the adult: A biochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Inherited human prion diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Neurologic and evoked potential abnormalities in subtle cobalamin deficiency states, including deficiency without anemia and with normal absorption of free cobalamin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Connective tissue disease mimicking multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Multiple sclerosis associated with vitamin B12 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Multiple sclerosis. The problem of incorrect diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Diseases that mimic multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Alexander's disease in an adult. Report of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Leigh's syndrome: The adult form of subacute necrotizing encephalomyelopathy with predilection for the brainstem

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Metachromatic leukodystrophy (MLD). XV. Adult MLD with focal lesions by computed tomography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

The clinical and pathological spectrum of brain-stem vascular malformations. Long-term course stimulates multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Presenile dementia with "Lafora-like" intraneuronal inclusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Atypical Leber's hereditary optic neuropathy with molecular confirmation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

Multiple sclerosis sibling pairs: Clustered onset and familial predisposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320490202

21 January 2018

Identifiers

DOI

10.1002/AJMG.1320490202

1 reference

release_tfumrpqb2fhx7m3xop32ibbhba

23 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tfumrpqb2fhx7m3xop32ibbhba

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference