Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

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Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.

P2860

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P2860

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

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http://www.wikidata.org/entity/Q35708770

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Longitudinal follow up of a bo ...... etailed phenotype description.

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Longitudinal follow up of a bo ...... etailed phenotype description.

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Longitudinal follow up of a bo ...... etailed phenotype description.

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Longitudinal follow up of a bo ...... etailed phenotype description.

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Longitudinal follow up of a bo ...... etailed phenotype description.

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Longitudinal follow up of a bo ...... etailed phenotype description.

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Longitudinal follow up of a bo ...... detailed phenotype description

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Giampiero Baroncelli

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Giovanni Cioni

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Manuela Casarano

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Rosa Pasquariello

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Silvano Bertelloni

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P2860

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Sexual differentiation of the adolescent rodent brain: hormonal influences and developmental mechanisms.

Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty.

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Current advances in bone health of disabled children.

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

P2888

s12881-015-0203-0

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scholarly article

case report

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10.1186/S12881-015-0203-0

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2015-07-25T00:00:00Z

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Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

about

P2860

P2860

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

description

name

type

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P478

P50

P577

P5875

P698

P932

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P1476

P2093

P2860

P2888

P304

P31

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P478

P50

P577

P5875

P698

P932