共 36 条
[1]
Genotype-phenotype correlations in recessive RYR1-related myopathies
[J].
Amburgey, Kimberly
;
Bailey, Angela
;
Hwang, Jean H.
;
Tarnopolsky, Mark A.
;
Bonnemann, Carsten G.
;
Medne, Livija
;
Mathews, Katherine D.
;
Collins, James
;
Daube, Jasper R.
;
Wellman, Gregory P.
;
Callaghan, Brian
;
Clarke, Nigel F.
;
Dowling, James J.
.
ORPHANET JOURNAL OF RARE DISEASES,
2013, 8

Amburgey, Kimberly
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

论文数: 引用数:
h-index:
机构:

Hwang, Jean H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Tarnopolsky, Mark A.
论文数: 0 引用数: 0
h-index: 0
机构:
McMaster Univ, Med Ctr, Dept Neuromuscular & Neurometabol Dis, Hamilton, ON, Canada Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Bonnemann, Carsten G.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Neuromuscular & Neurogenet Disorders Childhood Se, Bethesda, MD 20892 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Medne, Livija
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Mathews, Katherine D.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA
Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Collins, James
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Dept Pediat Neurol, Cincinnati, OH 45229 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Daube, Jasper R.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Fdn Med Educ & Res, Dept Neurol, Rochester, MN USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Wellman, Gregory P.
论文数: 0 引用数: 0
h-index: 0
机构:
Delta Pathol Grp, Shreveport, LA USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Callaghan, Brian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Clarke, Nigel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2145, Australia Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA

Dowling, James J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA
[2]
Genetics of neuromuscular fetal akinesia in the genomics era
[J].
Beecroft, Sarah Jane
;
Lombard, Marcus
;
Mowat, David
;
McLean, Catriona
;
Cairns, Anita
;
Davis, Mark
;
Laing, Nigel G.
;
Ravenscroft, Gianina
.
JOURNAL OF MEDICAL GENETICS,
2018, 55 (08)
:505-514

Beecroft, Sarah Jane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia
QEII Med Ctr, Harry Perkins Inst Med Res, QEII Med Ctr, QQ Block, Nedlands, WA, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

Lombard, Marcus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia
QEII Med Ctr, Harry Perkins Inst Med Res, QEII Med Ctr, QQ Block, Nedlands, WA, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

Mowat, David
论文数: 0 引用数: 0
h-index: 0
机构:
Sydney Childrens Hosp, Ctr Clin Genet, Sydney, NSW, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

McLean, Catriona
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred Hlth, Victorian Neuromuscular Lab, Melbourne, Vic, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

Cairns, Anita
论文数: 0 引用数: 0
h-index: 0
机构:
Lady Cilento Childrens Hosp, Dept Neurol, Brisbane, Qld, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

Davis, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

Laing, Nigel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia
QEII Med Ctr, Harry Perkins Inst Med Res, QEII Med Ctr, QQ Block, Nedlands, WA, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

Ravenscroft, Gianina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia
QEII Med Ctr, Harry Perkins Inst Med Res, QEII Med Ctr, QQ Block, Nedlands, WA, Australia Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia
[3]
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
[J].
Boissel, Sarah
;
Fallet-Bianco, Catherine
;
Chitayat, David
;
Kremer, Valerie
;
Nassif, Christina
;
Rypens, Francoise
;
Delrue, Marie-Ange
;
Dal Soglio, Dorothee
;
Oligny, Luc L.
;
Patey, Natalie
;
Flori, Elisabeth
;
Cloutier, Mireille
;
Dyment, David
;
Campeau, Philippe
;
Karalis, Aspasia
;
Nizard, Sonia
;
Fraser, William D.
;
Audibert, Francois
;
Lemyre, Emmanuelle
;
Rouleau, Guy A.
;
Hamdan, Fadi F.
;
Kibar, Zoha
;
Michaud, Jacques L.
.
GENETICS IN MEDICINE,
2018, 20 (07)
:745-753

Boissel, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Fallet-Bianco, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pathol, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Chitayat, David
论文数: 0 引用数: 0
h-index: 0
机构:
Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Toronto, ON, Canada CHU St Justine, Montreal, PQ, Canada

Kremer, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Strasbourg Univ Hosp, Dept Cytogenet, Strasbourg, France CHU St Justine, Montreal, PQ, Canada

Nassif, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Rypens, Francoise
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Radiol Radiooncol & Nucl Med, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Delrue, Marie-Ange
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Dal Soglio, Dorothee
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pathol, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Oligny, Luc L.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pathol, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Patey, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pathol, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Flori, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Strasbourg Univ Hosp, Dept Cytogenet, Strasbourg, France CHU St Justine, Montreal, PQ, Canada

Cloutier, Mireille
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada CHU St Justine, Montreal, PQ, Canada

Dyment, David
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada CHU St Justine, Montreal, PQ, Canada

Campeau, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Karalis, Aspasia
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Nizard, Sonia
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Fraser, William D.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Univ Sherbrooke, Res Ctr, Sherbrooke, PQ, Canada CHU St Justine, Montreal, PQ, Canada

论文数: 引用数:
h-index:
机构:

Lemyre, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Pediat, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Hamdan, Fadi F.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Kibar, Zoha
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada

Michaud, Jacques L.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU St Justine, Montreal, PQ, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada CHU St Justine, Montreal, PQ, Canada
[4]
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing
[J].
Casey, Jillian
;
Flood, Karen
;
Ennis, Sean
;
Doyle, Emma
;
Farrell, Michael
;
Lynch, Sally Ann
.
PRENATAL DIAGNOSIS,
2016, 36 (11)
:1020-1026

Casey, Jillian
论文数: 0 引用数: 0
h-index: 0
机构:
Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland
Univ Coll Dublin, Sch Med & Med Sci, UCD Acad Ctr Rare Dis, Dublin, Ireland Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland

Flood, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Rotunda Hosp, RCSI Unit, Royal Coll Surg Ireland, Dublin, Ireland Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland

Ennis, Sean
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Coll Dublin, Sch Med & Med Sci, UCD Acad Ctr Rare Dis, Dublin, Ireland Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland

Doyle, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Rotunda Hosp, Dublin, Ireland Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland

Farrell, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Neuropathol, Dublin, Ireland Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland

Lynch, Sally Ann
论文数: 0 引用数: 0
h-index: 0
机构:
Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland
Univ Coll Dublin, Sch Med & Med Sci, UCD Acad Ctr Rare Dis, Dublin, Ireland Temple St Childrens Univ Hosp, Clin Genet, Dublin, Ireland
[5]
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
[J].
Davis, MR
;
Haan, E
;
Jungbluth, H
;
Sewry, C
;
North, K
;
Muntoni, F
;
Kuntzer, T
;
Lamont, P
;
Bankier, A
;
Tomlinson, P
;
Sánchez, A
;
Walsh, P
;
Nagarajan, L
;
Oley, C
;
Colley, A
;
Gedeon, A
;
Quinlivan, R
;
Dixon, J
;
James, D
;
Müller, CR
;
Laing, NG
.
NEUROMUSCULAR DISORDERS,
2003, 13 (02)
:151-157

Davis, MR
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Haan, E
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Jungbluth, H
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Sewry, C
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

North, K
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Muntoni, F
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Kuntzer, T
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Lamont, P
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Bankier, A
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Tomlinson, P
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Sánchez, A
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Walsh, P
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Nagarajan, L
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Oley, C
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Colley, A
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Gedeon, A
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Quinlivan, R
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Dixon, J
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

James, D
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Müller, CR
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia

Laing, NG
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Dept Pathol Anat, Perth, WA 6000, Australia
[6]
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
[J].
Ellard, Sian
;
Kivuva, Emma
;
Turnpenny, Peter
;
Stals, Karen
;
Johnson, Matthew
;
Xie, Weijia
;
Caswell, Richard
;
Allen, Hana Lango
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2015, 23 (03)
:401-404

Ellard, Sian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England
Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Kivuva, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Turnpenny, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Stals, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Johnson, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Xie, Weijia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Caswell, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England

Allen, Hana Lango
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter EX2 5DW, Devon, England
[7]
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
[J].
Farwell, Kelly D.
;
Shahmirzadi, Layla
;
El-Khechen, Dima
;
Powis, Zoee
;
Chao, Elizabeth C.
;
Davis, Brigette Tippin
;
Baxter, Ruth M.
;
Zeng, Wenqi
;
Mroske, Cameron
;
Parra, Melissa C.
;
Gandomi, Stephanie K.
;
Lu, Ira
;
Li, Xiang
;
Lu, Hong
;
Lu, Hsiao-Mei
;
Salvador, David
;
Ruble, David
;
Lao, Monica
;
Fischbach, Soren
;
Wen, Jennifer
;
Lee, Shela
;
Elliott, Aaron
;
Dunlop, Charles L. M.
;
Tang, Sha
.
GENETICS IN MEDICINE,
2015, 17 (07)
:578-586

Farwell, Kelly D.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Shahmirzadi, Layla
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

El-Khechen, Dima
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Powis, Zoee
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Chao, Elizabeth C.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA
Univ Calif Irvine, Dept Pediat, Div Genet & Metab, Irvine, CA 92717 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Davis, Brigette Tippin
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Baxter, Ruth M.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Zeng, Wenqi
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Mroske, Cameron
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Parra, Melissa C.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Gandomi, Stephanie K.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lu, Ira
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Li, Xiang
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lu, Hong
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lu, Hsiao-Mei
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Salvador, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Ruble, David
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lao, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Fischbach, Soren
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Wen, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Lee, Shela
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Elliott, Aaron
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Dunlop, Charles L. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA

Tang, Sha
论文数: 0 引用数: 0
h-index: 0
机构:
Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA
[8]
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort
[J].
Fattori, Fabiana
;
Maggi, Lorenzo
;
Bruno, Claudio
;
Cassandrini, Denise
;
Codemo, Valentina
;
Catteruccia, Michela
;
Tasca, Giorgio
;
Berardinelli, Angela
;
Magri, Francesca
;
Pane, Marika
;
Rubegni, Anna
;
Santoro, Lucio
;
Ruggiero, Lucia
;
Fiorini, Patrizio
;
Pini, Antonella
;
Mongini, Tiziana
;
Messina, Sonia
;
Brisca, Giacomo
;
Colombo, Irene
;
Astrea, Guja
;
Fiorillo, Chiara
;
Bragato, Cinzia
;
Moroni, Isabella
;
Pegoraro, Elena
;
D'Apice, Maria Rosaria
;
Alfei, Enrico
;
Mora, Marina
;
Morandi, Lucia
;
Donati, Alice
;
Evila, Anni
;
Vihola, Anna
;
Udd, Bjarne
;
Bernansconi, Pia
;
Mercuri, Eugenio
;
Santorelli, Filippo Maria
;
Bertini, Enrico
;
D'Amico, Adele
.
JOURNAL OF NEUROLOGY,
2015, 262 (07)
:1728-1740

Fattori, Fabiana
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Maggi, Lorenzo
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Bruno, Claudio
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Giannina Gaslini, Ctr Myol & Neurodegenerat Dis, I-16148 Genoa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Cassandrini, Denise
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Stella Maris, Mol Med, Pisa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Codemo, Valentina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Neuromuscular Ctr, Dept Neurosci, Padua, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Catteruccia, Michela
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Tasca, Giorgio
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Berardinelli, Angela
论文数: 0 引用数: 0
h-index: 0
机构:
Unit Child Neurol & Psychiat C Mondino, Pavia, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Magri, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Dino Ferrari Ctr, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Pane, Marika
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ, Dept Pediat Neurol, Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Rubegni, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Stella Maris, Mol Med, Pisa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

论文数: 引用数:
h-index:
机构:

Ruggiero, Lucia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Fiorini, Patrizio
论文数: 0 引用数: 0
h-index: 0
机构:
Meyer Childrens Hosp, Dept Pediat, Florence, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Pini, Antonella
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Neurol Sci, Child Neurol Unit, Bologna, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Mongini, Tiziana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Neurosci, Rita Levi Montalcini, Turin, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

论文数: 引用数:
h-index:
机构:

Brisca, Giacomo
论文数: 0 引用数: 0
h-index: 0
机构:
Ist Giannina Gaslini, Ctr Myol & Neurodegenerat Dis, I-16148 Genoa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Colombo, Irene
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Maggiore Policlin, Dino Ferrari Ctr, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Astrea, Guja
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Stella Maris, Mol Med, Pisa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Fiorillo, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Stella Maris, Mol Med, Pisa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Bragato, Cinzia
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Moroni, Isabella
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Pegoraro, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Neuromuscular Ctr, Dept Neurosci, Padua, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

D'Apice, Maria Rosaria
论文数: 0 引用数: 0
h-index: 0
机构:
Policlin Tor Vergata, Med Genet Lab, Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Alfei, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Mora, Marina
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Morandi, Lucia
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Donati, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
Meyer Childrens Hosp, Dept Pediat, Florence, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Evila, Anni
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Dept Med Genet, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland
Univ Tampere, Neuromuscular Res Ctr, FIN-33101 Tampere, Finland
Tampere Univ Hosp, Tampere, Finland
Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Vihola, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Dept Med Genet, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland
Univ Tampere, Neuromuscular Res Ctr, FIN-33101 Tampere, Finland
Tampere Univ Hosp, Tampere, Finland
Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Udd, Bjarne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Dept Med Genet, Folkhalsan Inst Genet, Haartman Inst, Helsinki, Finland
Univ Tampere, Neuromuscular Res Ctr, FIN-33101 Tampere, Finland
Tampere Univ Hosp, Tampere, Finland
Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Bernansconi, Pia
论文数: 0 引用数: 0
h-index: 0
机构:
Neurol Inst Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Unit Child & Dev Neurol, Milan, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Mercuri, Eugenio
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ, Dept Pediat Neurol, Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Santorelli, Filippo Maria
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Stella Maris, Mol Med, Pisa, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

Bertini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy

D'Amico, Adele
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy Bambino Gesu Pediat Hosp, Unit Neuromuscular & Neurodegenerat Disorders, I-00146 Rome, Italy
[9]
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness
[J].
Fiszer, Dorota
;
Shaw, Marie-Anne
;
Fisher, Nickla A.
;
Carr, Ian M.
;
Gupta, Pawan K.
;
Watkins, Elizabeth J.
;
de Sa, Daniel Roiz
;
Kim, Jerry H.
;
Hopkins, Philip M.
.
ANESTHESIOLOGY,
2015, 122 (05)
:1033-1046

Fiszer, Dorota
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England
St James Univ Hosp, Malignant Hyperthermia Invest Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Shaw, Marie-Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England
St James Univ Hosp, Malignant Hyperthermia Invest Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Fisher, Nickla A.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Malignant Hyperthermia Invest Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Carr, Ian M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Gupta, Pawan K.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Malignant Hyperthermia Invest Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Watkins, Elizabeth J.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Malignant Hyperthermia Invest Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

de Sa, Daniel Roiz
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Naval Med, Environm Med & Sci Div, Alverstoke, Hants, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Kim, Jerry H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Anesthesiol & Pain Med, Seattle, WA 98195 USA Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England

Hopkins, Philip M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England
St James Univ Hosp, Malignant Hyperthermia Invest Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Sch Med, Leeds Inst Biomed & Clin Sci, Leeds LS2 9JT, W Yorkshire, England
[10]
MOLECULAR-STRUCTURE AND TISSUE DISTRIBUTION OF RYANODINE RECEPTORS CALCIUM CHANNELS
[J].
GIANNINI, G
;
SORRENTINO, V
.
MEDICINAL RESEARCH REVIEWS,
1995, 15 (04)
:313-323

GIANNINI, G
论文数: 0 引用数: 0
h-index: 0
机构: IST SCI SAN RAFFAELE, DIBIT, I-20132 MILAN, ITALY

SORRENTINO, V
论文数: 0 引用数: 0
h-index: 0
机构: IST SCI SAN RAFFAELE, DIBIT, I-20132 MILAN, ITALY