(Q28214571)

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia in neonates

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

A FAMILY WITH EMOTIONALLY PRECIPITATEED "DROP SEIZURES"

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The startle disease or hyperekplexia. Pathological surprise reaction.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Congenital stiff-man syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia: pedigree studies in two families

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia and sudden neonatal death

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia associated with apnea and sudden infant death syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia, a cause of neonatal apnea: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Molecular genetic reevaluation of the Dutch hyperekplexia family

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Startle responses in hereditary hyperekplexia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Mutational analysis of familial and sporadic hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia relieved by surgical decompression of the cervicomedullary region

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia and trismus due to brainstem encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Symptomatic hyperekplexia occurring as a result of pontine infarction

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Glycine receptors: a startling connection

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Structure and functions of inhibitory and excitatory glycine receptors.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The startle disease mutation Q266H, in the second transmembrane domain of the human glycine receptor, impairs channel gating

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Structure-function relationships of the human glycine receptor: insights from hyperekplexia mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The hyperekplexias and their relationship to the normal startle reflex

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Human startle reflex: technique and criteria for abnormal response

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Physiological abnormalities in hereditary hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Increased startle responses in mice carrying mutations of glycine receptor subunit genes

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

The effects of clonazepam and vigabatrin in hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Startle disease or hyperekplexia: adolescent onset and response to valproate

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Neonatal sporadic hyperekplexia: a rare and often unrecognized entity.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021

Beneficial effect of fluoxetine in a case of sporadic hyperekplexia.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900095-5

7 January 2021