(Q28212105)

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Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

scientific article (publication date: December 2001)

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Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

0 references

frontotemporal dementia

1 reference

based on heuristic

inferred from title

Hereditary inclusion body myopathy

1 reference

based on heuristic

inferred from title

Virginia Kimonis

19

object named as

V E Kimonis

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

author name string

M J Kovach

1

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13 May 2020

B Waggoner

2

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13 May 2020

S M Leal

3

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13 May 2020

D Gelber

4

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13 May 2020

R Khardori

5

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13 May 2020

M A Levenstien

6

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13 May 2020

C A Shanks

7

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13 May 2020

G Gregg

8

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13 May 2020

M T Al-Lozi

9

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13 May 2020

T Miller

10

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13 May 2020

W Rakowicz

11

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13 May 2020

G Lopate

12

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13 May 2020

J Florence

13

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13 May 2020

G Glosser

14

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13 May 2020

Z Simmons

15

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

J C Morris

16

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13 May 2020

M P Whyte

17

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13 May 2020

A Pestronk

18

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13 May 2020

language of work or name

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publication date

December 2001

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Molecular Genetics and Metabolism

1 reference

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13 May 2020

74

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13 May 2020

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

458-475

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

Incorrect diagnosis of Alzheimer's disease. A clinicopathologic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and characterization of the human interleukin-11 receptor alpha-chain gene, IL11RA, located on chromosome 9p13

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inheritance of frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of the NINCDS-ADRDA criteria in the differentiation of Alzheimer's disease and frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sporadic inclusion-body myositis and its similarities to Alzheimer disease brain. Recent approaches to diagnosis and pathogenesis, and relation to aging

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunolocalization of transcription factor NF-kappaB in inclusion-body myositis muscle and at normal human neuromuscular junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fixed archival tissue. Purify DNA and primers for good PCR yield!

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

“Mini-mental state”

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paget's disease and muscular dystrophy. Report of an unusual association in one family

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA extraction from formalin-fixed, paraffin-embedded tissues: protein digestion as a limiting step for retrieval of high-quality DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inclusion-body myositis: newest concepts of pathogenesis and relation to aging and Alzheimer disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA extraction from paraffin-embedded tissues using a salting-out procedure: a reliable method for PCR amplification of archival material

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Faster sequential genetic linkage computations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominantly inherited cytoplasmic body myopathy in a Japanese kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paget disease of bone: mapping of two loci at 5q35-qter and 5q31.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computer programs for multilocus haplotyping of general pedigrees.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear inclusions in Paget's disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Validation of a short Orientation-Memory-Concentration Test of cognitive impairment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very mild senile dementia of the Alzheimer type. II. Psychometric test performance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radiation hybrid mapping of the human MN/CA9 locus to chromosome band 9p12-p13

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neurologic complications of Paget's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial inclusion body myositis among Kurdish-Iranian Jews

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary inclusion body myopathy maps to chromosome 9p1-q1

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial non-specific dementia maps to chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophia myotonica associated with familial Paget's disease (osteitis deformans) with sarcomata

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/11749051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1006/MGME.2001.3256

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6277059&resulttype=core&format=json

13 May 2020

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