(Q41735698)

8 October 2017

1 reference

title

Molecular basis of genetic heterogeneity: role of the clinical neurologist (English)

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8 October 2017

L P Rowland

1

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8 October 2017

publication date

1 March 1998

1 reference

Journal of Child Neurology

8 October 2017

published in

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8 October 2017

volume

13

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8 October 2017

issue

3

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8 October 2017

page(s)

122-132

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The genetic basis of neuromuscular disorders

8 October 2017

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Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

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Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus

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Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

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21 January 2018

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21 January 2018

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Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues

21 January 2018

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Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

21 January 2018

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The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

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The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

21 January 2018

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Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

21 January 2018

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21 January 2018

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Clinical and molecular genetic features of congenital spinal muscular atrophy

21 January 2018

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Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy

21 January 2018

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Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family

21 January 2018

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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

21 January 2018

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

21 January 2018

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The limb-girdle muscular dystrophies--proposal for a new nomenclature.

21 January 2018

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The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability

21 January 2018

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21 January 2018

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Dystrophin-associated proteins and the muscular dystrophies

21 January 2018

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

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Mutations in the sarcoglycan genes in patients with myopathy

21 January 2018

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

21 January 2018

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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

21 January 2018

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Muscular dystrophies and the dystrophin-glycoprotein complex

21 January 2018

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21 January 2018

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Why do DNA testing? Practical and ethical implications of new neurogenetic tests

21 January 2018

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Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

21 January 2018

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Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

21 January 2018

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21 January 2018

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21 January 2018

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

21 January 2018

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Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

21 January 2018

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Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy

21 January 2018

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Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family

21 January 2018

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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

21 January 2018

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21 January 2018

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21 January 2018

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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

21 January 2018

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21 January 2018

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

21 January 2018

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Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

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Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity

21 January 2018

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Progressive dementia, visual deficits, amyotrophy, and microinfarcts

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

21 January 2018

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Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

The neuropathology of chromosome 17-linked dementia

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

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21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?

21 January 2018

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Andersen's syndrome: A distinct periodic paralysis

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300306

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300306

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

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21 January 2018

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Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Huntington's disease: translating a CAG repeat into a pathogenic mechanism

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300306

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Position-effect variegation and the new biology of heterochromatin

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

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https://api.crossref.org/works/10.1177%2F088307389801300306

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F088307389801300306

10.1177/088307389801300306

21 January 2018

Identifiers

DOI

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1 reference