(Q35226294)

7 August 2017

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title

The floppy infant: contribution of genetic and metabolic disorders (English)

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7 August 2017

Asuri N Prasad

1

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7 August 2017

Chitra Prasad

series ordinal

2

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7 August 2017

publication date

1 October 2003

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7 August 2017

published in

Brain and Development

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7 August 2017

volume

25

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7 August 2017

issue

7

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7 August 2017

page(s)

457-476

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Traumatic cerebral flaccid paraplegia.

7 August 2017

cites work

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7 January 2021

Diagnostic profile of neonatal hypotonia: an 11-year study

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7 January 2021

Arthrogryposis multiplex congenita: spectrum of pathologic changes

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7 January 2021

Clinical Evaluation of the Floppy Infant

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7 January 2021

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

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7 January 2021

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Electromyography and biopsy correlation with suggested protocol for evaluation of the floppy infant

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7 January 2021

Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis

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7 January 2021

73(rd) ENMC International Workshop: congenital myasthenic syndromes. 22-23 October, 1999, Naarden, The Netherlands.

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7 January 2021

Clinical approach to inherited metabolic disorders in neonates

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7 January 2021

The neonatal presentation of Prader-Willi syndrome revisited

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7 January 2021

Prader-Willi and Angelman syndromes: sister imprinted disorders

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7 January 2021

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

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7 January 2021

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

1 reference

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7 January 2021

22q13 deletion syndrome

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7 January 2021

Neuromuscular disorders in the newborn

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

The role of the SMN gene in proximal spinal muscular atrophy

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Abnormal fatty acid metabolism in childhood spinal muscular atrophy

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Diaphragmatic spinal muscular atrophy with bulbar weakness

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

1 reference

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7 January 2021

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Dominant congenital benign spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Guillain-Barré syndrome. Another cause of the "floppy infant"

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Neonatal Guillain-Barré syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Asian paralysis syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

[Neonatal myasthenia gravis]

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Neurobehavioral effects of neonatal hypermagnesemia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Differential Diagnosis of Infant Botulism

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital muscular dystrophy: an expanding clinical syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

The fukutin protein family--predicted enzymes modifying cell-surface molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Selenium and coenzyme Q10 levels in the tissues of dystrophic and healthy calves

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

The utility of the determination of CTG trinucleotide repeat length in hypotonic infants

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Surplus protein myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Gene-related protein surplus myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital myopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Nemaline myopathy: a clinical study of 143 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital myopathies and congenital muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Association of SET domain and myotubularin-related proteins modulates growth control

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital fibre type disproportion a time-locked diagnosis: a clinical and morphological follow-up study

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders

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https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Clinical variability in congenital fiber type disproportion.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy).

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital fiber type disproportion: severe form with marked improvement

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Benign Congenital Hypotonia: A Syndrome or a Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Benign congenital hypotonia is not a diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Benign congenital hypotonia. A clinical study in 43 children

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Congenital hypotonia with favorable outcome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

Neonatal metabolic myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

The floppy infant--a practical approach to classification

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2803%2900066-4

7 January 2021

10.1016/S0387-7604(03)00066-4

Identifiers

DOI

1 reference

7 August 2017

1 reference