共 13 条
[1]
[Anonymous], 2023, Online Mendelian Inheritance in Man, OMIM
[2]
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy
[J].
Carapancea, Evelina
;
Cornet, Marie-Coralie
;
Milh, Mathieu
;
De Cosmo, Lucrezia
;
Huang, Eric J.
;
Granata, Tiziana
;
Striano, Pasquale
;
Ceulemans, Berten
;
Stein, Anja
;
Morris-Rosendahl, Deborah
;
Conti, Greta
;
Mitra, Nipa
;
Raymond, F. Lucy
;
Rowitch, David H.
;
Solazzi, Roberta
;
Vercellino, Fabiana
;
De Liso, Paola
;
D'Onofrio, Gianluca
;
Boniver, Clementina
;
Danhaive, Olivier
;
Carkeek, Katherine
;
Salpietro, Vincenzo
;
Weckhuysen, Sarah
;
Fedrigo, Marny
;
Angelini, Annalisa
;
Castellotti, Barbara
;
Lederer, Damien
;
Benoit, Valerie
;
Raviglione, Federico
;
Guerrini, Renzo
;
Dilena, Robertino
;
Cilio, Maria Roberta
.
NEUROLOGY,
2023, 100 (12)
:E1234-E1247

Carapancea, Evelina
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Cornet, Marie-Coralie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Milh, Mathieu
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, Hop La Timone Enfants, Inst Natl Sante & Rech Medicale, Fac Sci Med & Paramed Timone,Dept Pediat Neurol, Marseille, France Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

De Cosmo, Lucrezia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bari Aldo Moro, Dept Neonatol, Bari, Italy
Univ Bari Aldo Moro, Neonatal Intens Care Unit, Bari, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Huang, Eric J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Pathol, Div Neuropathol, San Francisco, CA USA Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Granata, Tiziana
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Striano, Pasquale
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth DiN, Genoa, Italy
Univ Genoa, IRCCS Ist Giannina Gaslini, Genoa, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Ceulemans, Berten
论文数: 0 引用数: 0
h-index: 0
机构: Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Stein, Anja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Univr Ziekenhuis Antwerpen, Dept Pediat, Div Paediat Neurol Berten Ceulemans, Antwerp, Belgium
Univ Duisburg Essen, Univ Klinikum Essen, Dept Pediat, Div Neonatol, Essen, Germany Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Morris-Rosendahl, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Brompton & Harefield Hosp, Guys & St ThomasNHS Fdn Trust, Clin Genet & Genom Lab, London, England
Imperial Coll London, NHLI, London, England
Univ Calif San Francisco, Dept Pediat, Div Neonatol, San Francisco, CA USA Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Conti, Greta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Firenze, Meyer Azienda Ospedaliero Univ Meyer, Dept Pediat Neurol, Florence, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Mitra, Nipa
论文数: 0 引用数: 0
h-index: 0
机构:
Cambridge Univ Hosp, Neonatal Intens Care Unit, Cambridge, England Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Raymond, F. Lucy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge, England Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Rowitch, David H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge, England Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Solazzi, Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, Milan, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Vercellino, Fabiana
论文数: 0 引用数: 0
h-index: 0
机构:
SS Antonio & Biagio & Cesare Arrigo Hosp, Child Neuropsychiat Unit, Alessandria, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

De Liso, Paola
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Pediatr Bambino Gesu IRCCS, Dept Neurosci, Rome, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

D'Onofrio, Gianluca
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Genoa, Dept Neurosci, Rehabil Ophthalmol Genet Maternal & Child Hlth DiN, Genoa, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Boniver, Clementina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Womens & Childrens Hlth, Div Pediat Neurol & Neurophysiol, Padua, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Danhaive, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Univ St Luc, Dept Pediat, Div Neonatol, Brussels, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Carkeek, Katherine
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Univ St Luc, Dept Pediat, Div Neonatol, Brussels, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Salpietro, Vincenzo
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, London, England
Natl Hosp Neurol & Neurosurg, London, England Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Weckhuysen, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Univ Ziekenhuis Antwerpen, Dept Neurol, Antwerp, Belgium
VIB Ctr Mol Neurol, Appl & Translat Neurogenom Grp, Antwerp, Belgium
Univ Antwerp, Fac Med & Hlth Sci, Translat Neurosci, Antwerp, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Fedrigo, Marny
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Padua, Dept Cardiac Thorac Vasc Sci & Public Hlth, Padua, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

论文数: 引用数:
h-index:
机构:

Castellotti, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS Ist Neurol Carlo Besta, Dept Med Genet & Neurogenet, Milan, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Lederer, Damien
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Dept Human Genet, Charleroi, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Benoit, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pathol & Genet, Dept Human Genet, Charleroi, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Raviglione, Federico
论文数: 0 引用数: 0
h-index: 0
机构:
ASST Rhodense, Hosp Neuropsychiat Serv, Milan, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Guerrini, Renzo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Firenze, Meyer Azienda Ospedaliero Univ Meyer, Dept Pediat Neurol, Florence, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Dilena, Robertino
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS CaGranda Osped Maggiore Policlin, Dept Clin Neurophysiol, Milan, Italy Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium

Cilio, Maria Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium
Catholic Univ Louvain, Clin Univ St Luc, Dept Pediat, Div Pediat Neurol, Brussels, Belgium Catholic Univ Louvain, Inst Neurosci, Brussels, Belgium
[3]
HYPEREXPLEXIA AND STIFF-BABY SYNDROME - AN IDENTICAL NEUROLOGICAL DISORDER
[J].
CIONI, G
;
BIAGIONI, E
;
BOTTAI, P
;
CASTELLACCI, AM
;
PAOLICELLI, PB
.
ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES,
1993, 14 (02)
:145-152

CIONI, G
论文数: 0 引用数: 0
h-index: 0
机构: Istituto di Neuropsichiatria e Psicopedagogia dell'Età Evolutiva, Fondazione Stella Maris Istituto Scientifico, Università di Pisa, Calambrone, Pisa, 56018, Via dei Giacinti

BIAGIONI, E
论文数: 0 引用数: 0
h-index: 0
机构: Istituto di Neuropsichiatria e Psicopedagogia dell'Età Evolutiva, Fondazione Stella Maris Istituto Scientifico, Università di Pisa, Calambrone, Pisa, 56018, Via dei Giacinti

BOTTAI, P
论文数: 0 引用数: 0
h-index: 0
机构: Istituto di Neuropsichiatria e Psicopedagogia dell'Età Evolutiva, Fondazione Stella Maris Istituto Scientifico, Università di Pisa, Calambrone, Pisa, 56018, Via dei Giacinti

CASTELLACCI, AM
论文数: 0 引用数: 0
h-index: 0
机构: Istituto di Neuropsichiatria e Psicopedagogia dell'Età Evolutiva, Fondazione Stella Maris Istituto Scientifico, Università di Pisa, Calambrone, Pisa, 56018, Via dei Giacinti

PAOLICELLI, PB
论文数: 0 引用数: 0
h-index: 0
机构: Istituto di Neuropsichiatria e Psicopedagogia dell'Età Evolutiva, Fondazione Stella Maris Istituto Scientifico, Università di Pisa, Calambrone, Pisa, 56018, Via dei Giacinti
[4]
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood
[J].
Fowkes, Ross
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Elwan, Menatalla
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Akay, Ela
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Mitchell, Clinton J.
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Thomas, Rhys H.
;
Lewis-Smith, David
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EPILEPSY & BEHAVIOR REPORTS,
2022, 19

Fowkes, Ross
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England

Elwan, Menatalla
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England

Akay, Ela
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England

Mitchell, Clinton J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Wales, Dept Neurol, Heath Pk, Cardiff CF14 4XN, Wales Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England

Thomas, Rhys H.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England
Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne NE2 4HH, England
Newcastle Univ, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England

Lewis-Smith, David
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England
Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne NE2 4HH, England Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, England
[5]
Neonatal hypertonia - a diagnostic challenge
[J].
Hart, Anthony R.
;
Sharma, Ruchi
;
Rittey, Christopher D.
;
Mordekar, Santosh R.
.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY,
2015, 57 (07)
:600-610

Hart, Anthony R.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England

Sharma, Ruchi
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurodisabil, Ryegate Childrens Ctr, Sheffield S10 5DD, S Yorkshire, England Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England

Rittey, Christopher D.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England

Mordekar, Santosh R.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England Sheffield Childrens Hosp NHS Fdn Trust, Dept Paediat Neurol, Sheffield S10 5DD, S Yorkshire, England
[6]
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome
[J].
Li, Shan
;
Yu, Shunan
;
Zhang, Yanzhuo
;
Wang, Ying
;
Jiang, Xu
;
Wu, Chengai
.
MOLECULAR GENETICS & GENOMIC MEDICINE,
2023, 11 (01)

Li, Shan
论文数: 0 引用数: 0
h-index: 0
机构:
Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China

Yu, Shunan
论文数: 0 引用数: 0
h-index: 0
机构:
Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China

Zhang, Yanzhuo
论文数: 0 引用数: 0
h-index: 0
机构:
Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China

Wang, Ying
论文数: 0 引用数: 0
h-index: 0
机构:
Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China

Jiang, Xu
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ, Beijing Jishuitan Hosp, Dept Orthopaed, Clin Med Coll 4, Beijing, Peoples R China Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China

Wu, Chengai
论文数: 0 引用数: 0
h-index: 0
机构:
Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China Beijing Jishuitan Hosp, Beijing Res Inst Traumatol & Orthopaed, Dept Mol Orthopaed, Beijing, Peoples R China
[7]
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
[J].
Puffenberger, Erik G.
;
Jinks, Robert N.
;
Sougnez, Carrie
;
Cibulskis, Kristian
;
Willert, Rebecca A.
;
Achilly, Nathan P.
;
Cassidy, Ryan P.
;
Fiorentini, Christopher J.
;
Heiken, Kory F.
;
Lawrence, Johnny J.
;
Mahoney, Molly H.
;
Miller, Christopher J.
;
Nair, Devika T.
;
Politi, Kristin A.
;
Worcester, Kimberly N.
;
Setton, Roni A.
;
DiPiazza, Rosa
;
Sherman, Eric A.
;
Eastman, James T.
;
Francklyn, Christopher
;
Robey-Bond, Susan
;
Rider, Nicholas L.
;
Gabriel, Stacey
;
Morton, D. Holmes
;
Strauss, Kevin A.
.
PLOS ONE,
2012, 7 (01)

Puffenberger, Erik G.
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Special Children, Strasburg, PA 17579 USA
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Jinks, Robert N.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Sougnez, Carrie
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst, Boston, MA USA Clin Special Children, Strasburg, PA 17579 USA

论文数: 引用数:
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Willert, Rebecca A.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Achilly, Nathan P.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Cassidy, Ryan P.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Fiorentini, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Heiken, Kory F.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Lawrence, Johnny J.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Mahoney, Molly H.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Miller, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Nair, Devika T.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Politi, Kristin A.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Worcester, Kimberly N.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Setton, Roni A.
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

DiPiazza, Rosa
论文数: 0 引用数: 0
h-index: 0
机构:
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA Clin Special Children, Strasburg, PA 17579 USA

Sherman, Eric A.
论文数: 0 引用数: 0
h-index: 0
机构:
Swarthmore Coll, Dept Biol, Swarthmore, PA 19081 USA Clin Special Children, Strasburg, PA 17579 USA

Eastman, James T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wisconsin, Dept Pathol & Lab Med, Sch Med & Publ Hlth, Madison, WI USA Clin Special Children, Strasburg, PA 17579 USA

Francklyn, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vermont, Coll Med, Burlington, VT USA Clin Special Children, Strasburg, PA 17579 USA

Robey-Bond, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vermont, Coll Med, Burlington, VT USA Clin Special Children, Strasburg, PA 17579 USA

Rider, Nicholas L.
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Special Children, Strasburg, PA 17579 USA
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA
Lancaster Gen Hosp, Lancaster, PA USA Clin Special Children, Strasburg, PA 17579 USA

Gabriel, Stacey
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst, Boston, MA USA Clin Special Children, Strasburg, PA 17579 USA

Morton, D. Holmes
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Special Children, Strasburg, PA 17579 USA
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA
Lancaster Gen Hosp, Lancaster, PA USA Clin Special Children, Strasburg, PA 17579 USA

Strauss, Kevin A.
论文数: 0 引用数: 0
h-index: 0
机构:
Clin Special Children, Strasburg, PA 17579 USA
Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA
Franklin & Marshall Coll, Biol Fdn, Behav Program, Lancaster, PA 17604 USA
Lancaster Gen Hosp, Lancaster, PA USA Clin Special Children, Strasburg, PA 17579 USA
[8]
Hyperekplexia and other startle syndromes
[J].
Saini, Arushi Gahlot
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Pandey, Sanjay
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JOURNAL OF THE NEUROLOGICAL SCIENCES,
2020, 416

Saini, Arushi Gahlot
论文数: 0 引用数: 0
h-index: 0
机构:
Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh 160012, India Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh 160012, India

Pandey, Sanjay
论文数: 0 引用数: 0
h-index: 0
机构:
Govind Ballabh Pant Inst Postgrad Med Educ & Res, Dept Neurol, JLN Marg, New Delhi 110002, India Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh 160012, India
[9]
BRAT1 Mutations Present with a Spectrum of Clinical Severity
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Srivastava, Siddharth
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Olson, Heather E.
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Cohen, Julie S.
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Gubbels, Cynthia S.
;
Lincoln, Sharyn
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Davis, Brigette Tippin
;
Shahmirzadi, Layla
;
Gupta, Siddharth
;
Picker, Jonathan
;
Yu, Timothy W.
;
Miller, David T.
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Soul, Janet S.
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Srivastava, Siddharth
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机构:
Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA
Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA
Johns Hopkins Univ Hosp, Dept Pediat, Baltimore, MD 21287 USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Olson, Heather E.
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Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program,Div Epilepsy & Clin Neurop, Boston, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Cohen, Julie S.
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Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Gubbels, Cynthia S.
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Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
Broad Inst MIT & Harvard, Cambridge, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Lincoln, Sharyn
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Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Davis, Brigette Tippin
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Ambry Genet, 15 Argonaut, Aliso Viejo, CA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Shahmirzadi, Layla
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Ambry Genet, 15 Argonaut, Aliso Viejo, CA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

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Picker, Jonathan
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Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Yu, Timothy W.
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Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
Broad Inst MIT & Harvard, Cambridge, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Miller, David T.
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Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA
Claritas Genom, Cambridge, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Soul, Janet S.
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Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

Poretti, Andrea
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Johns Hopkins Univ Hosp, Russell H Morgan Dept Radiol & Radiol Sci, Div Pediat Radiol, Sect Pediat Neuroradiol, Baltimore, MD 21287 USA Kennedy Krieger Inst, Hugo W Moser Res Inst, 707 North Broadway, Baltimore, MD 21205 USA

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Szymanska, Krystyna
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Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Laure-Kamionowska, Milena
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Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Szczaluba, Krzysztof
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Med Univ Warsaw, Dept Med Genet, 3C Pawinskiego St, PL-02106 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Koppolu, Agnieszka
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Med Univ Warsaw, Dept Med Genet, 3C Pawinskiego St, PL-02106 Warsaw, Poland
Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Furmanek, Mariusz
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Ctr Postgrad Med Educ, Dept Diagnost Imaging, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Kusmierska, Katarzyna
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Inst Mother & Child Hlth, Dept Clin & Metab Diagnost, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Boniel, Snir
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Med Univ Warsaw, Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

Ploski, Rafal
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Med Univ Warsaw, Dept Med Genet, 3C Pawinskiego St, PL-02106 Warsaw, Poland Polish Acad Sci, Mossakowski Med Res Ctr, Dept Expt & Clin Neuropathol, Warsaw, Poland

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