Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
第一作者:
Rodan, Lance H.
作者:
Rodan, Lance H. [1]
;
Spillmann, Rebecca C. [2]
;
Kurata, Harley T. [3]
;
Lamothe, Shawn M. [4]
;
Maghera, Jasmine [5]
;
Abou Jamra, Rami [6]
;
Alkelai, Anna [7]
;
Antonarakis, Stylianos E. [8]
;
Atallah, Isis [9]
;
Bar-Yosef, Omer [10]
;
Bilan, Frederic [11]
;
Bjorgo, Kathrine [12]
;
Blanc, Xavier [13]
;
Van Bogaert, Patrick [14]
;
Bolkier, Yoav [15]
;
Burrage, Lindsay C. [16]
;
Christ, Bjorn U. [17]
;
Granadillo, Jorge L. [18]
;
Dickson, Patricia [19]
;
Donald, Kirsten A. [20]
;
Dubourg, Christele [21]
;
Eliyahu, Aviva [22]
;
Emrick, Lisa [23]
;
Engleman, Kendra [24]
;
Gonfiantini, Michaela Veronika [25]
;
Good, Jean-Marc [26]
;
Kalser, Judith [27]
;
Kloeckner, Chiara [28]
;
Lachmeijer, Guus [29]
;
Macchiaiolo, Marina [30]
;
Nicita, Francesco [31]
;
Odent, Sylvie [32]
;
O'Heir, Emily [33]
;
Ortiz-Gonzalez, Xilma ;
Pacio-Miguez, Marta ;
Palomares-Bralo, Maria ;
Pena, Loren ;
Platzer, Konrad ;
Quinodoz, Mathieu ;
Ranza, Emmanuelle ;
Rosenfeld, Jill A. ;
Roulet-Perez, Eliane ;
Santani, Avni ;
Santos-Simarro, Fernando ;
Pode-Shakked, Ben ;
Skraban, Cara ;
Slaugh, Rachel ;
Superti-Furga, Andrea ;
Thiffault, Isabelle ;
van Jaabrsveld, Richard H. ;
Vincent, Marie ;
Wang, Hong-Gang ;
Zacher, Pia ;
Rush, Eric ;
Pitt, Geoffrey ;
Au, Ping Yee Billie ;
Shashi, Vandana
作者单位:
Saxon Epilepsy Ctr Kleinwachau, Radeberg, Germany
[1]
IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci & Neurorehabil, Unit Neuromuscular &
[2]
Columbia Univ, Med Ctr, Inst Genom Med, New York, NY USA
[3]
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[4]
Lausanne Univ Hosp, Pediat Neurol, Lausanne, Switzerland
[5]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[6]
Swiss Inst Genom Med, Medigenome, Geneva, Switzerland
[7]
Duke Hlth, Div Med Genet, Dept Pediat, Durham, NC 27710 USA
[8]
Boston Childrens Hosp, Div Genet & Genom, Dept Pediat, Boston, MA USA
[9]
Lausanne Univ Hosp, Div Med Genet, Lausanne, Switzerland
[10]
Weill Cornell Med, Cardiovasc Res Inst, New York, NY USA
[11]
Univ Alberta, Alberta Diabet Inst, Dept Pharmacol, Edmonton, AB, Canada
[12]
Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
[13]
Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA
[14]
Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
[15]
Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA
[16]
Childrens Mercy Hosp, Kansas City, MO USA
[17]
CHU Angers, Serv Pediat, NEUVACOD, EA3808, Angers, France
[18]
Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel
[19]
Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPAZ, CIBERER,ISCIII, Madrid, Spain
[20]
Edmond & Lily Safra Childrens Hosp, Pediat Neurol Unit, Sheba Med Ctr, Tel Hahsomer, Israel
[21]
Inst Mol & Clin Ophthalmol Basel IOB, Basel, Switzerland
[22]
Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA
[23]
Univ Leipzig, Inst Human Genet, Med Ctr, Leipzig, Germany
[24]
Univ Calgary, Dept Genet, Cumming Sch Med, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada
[25]
IRCCS Bambino Gesu Childrens Hosp, Rare Dis & Med Genet Unit, Rome, Italy
[26]
Oslo Univ Hosp, Dept Med Genet, Oslo, Norway
[27]
Cincinnati Childrens Hosp & Med Ctr, Cincinnati, OH USA
[28]
CHU Nantes, Serv Genet Med, Nantes, France
[29]
CHU Rennes, Serv Genet Mol & Genom, Rennes, France
[30]
Hop SUD, Ctr Reference Malad Rares Anomalies Dev CLAD Oues, Serv Genet Clin, Echirolles, France
[31]
CHU Poitiers, Serv Genet, NEUVACOD, EA3808, Poitiers, France
[32]
Univ Cape Town, Red Cross War Mem Childrens Hosp, Dept Paediat & Child Hlth, Cape Town, SA, South
[33]
发布时间
2021-12-22
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Genetics in medicine
Genetics in medicine
1922-1932页
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