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Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
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Hannah-Shmouni, Fady
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MacNeil, Lauren
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Brady, Lauren
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Nilsson, Mats, I
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Tarnopolsky, Mark
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FRONTIERS IN NEUROLOGY,
2019, 10

Hannah-Shmouni, Fady
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Clin Biochem Genet, Toronto, ON, Canada
NICHHD, Sect Endocrinol & Genet, NIH, Bethesda, MD 20892 USA Univ Toronto, Hosp Sick Children, Clin Biochem Genet, Toronto, ON, Canada

MacNeil, Lauren
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Div Pediat Lab Med, Toronto, ON, Canada
Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Clin Biochem Genet, Toronto, ON, Canada

Brady, Lauren
论文数: 0 引用数: 0
h-index: 0
机构:
McMaster Univ, Dept Pediat, Hamilton, ON, Canada Univ Toronto, Hosp Sick Children, Clin Biochem Genet, Toronto, ON, Canada

Nilsson, Mats, I
论文数: 0 引用数: 0
h-index: 0
机构:
McMaster Univ, Dept Pediat, Hamilton, ON, Canada Univ Toronto, Hosp Sick Children, Clin Biochem Genet, Toronto, ON, Canada

Tarnopolsky, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
McMaster Univ, Dept Pediat, Hamilton, ON, Canada Univ Toronto, Hosp Sick Children, Clin Biochem Genet, Toronto, ON, Canada
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Age at death and comorbidity of dementia-related disorders among individuals with autism spectrum disorder
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Barnard-Brak, Lucy
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Richman, David
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Yang, Zhanxia
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ADVANCES IN AUTISM,
2019, 5 (04)
:293-302

Barnard-Brak, Lucy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama, Tuscaloosa, AL 35487 USA Univ Alabama, Tuscaloosa, AL 35487 USA

Richman, David
论文数: 0 引用数: 0
h-index: 0
机构:
Texas Tech Univ, Lubbock, TX 79409 USA Univ Alabama, Tuscaloosa, AL 35487 USA

Yang, Zhanxia
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h-index: 0
机构:
Texas Tech Univ, Lubbock, TX 79409 USA Univ Alabama, Tuscaloosa, AL 35487 USA
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Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment
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Zekanowski, Cezary
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Golan, Maciej P.
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Krzysko, Krystiana A.
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Lipczynska-Lojkowska, Wanda
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Filipek, Slawomir
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Kowalska, Anna
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Rossa, Grzegorz
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Peplonska, Beata
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Styczynska, Maria
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Maruszak, Aleksandra
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Religa, Dorota
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Wender, Mieczyslaw
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Kulczycki, Jerzy
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Barcikowska, Maria
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Kuznicki, Jacek
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EXPERIMENTAL NEUROLOGY,
2006, 200 (01)
:82-88

Zekanowski, Cezary
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Golan, Maciej P.
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Krzysko, Krystiana A.
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Lipczynska-Lojkowska, Wanda
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Filipek, Slawomir
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Kowalska, Anna
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Rossa, Grzegorz
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Peplonska, Beata
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Styczynska, Maria
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Maruszak, Aleksandra
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Religa, Dorota
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Wender, Mieczyslaw
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Kulczycki, Jerzy
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Barcikowska, Maria
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland

Kuznicki, Jacek
论文数: 0 引用数: 0
h-index: 0
机构: Polish Acad Sci, Med Res Ctr, Dept Neurodegenerat Disorders, PL-02106 Warsaw, Poland
[24]
COL4A1-related disorder as a mimic of congenital TORCHES infection-Expanding the clinical, neuroimaging and genotype spectrum
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Kukulka, Natalie A.
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Zarei, Sanam
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Glass, Joshua
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Bouska, Cecilia
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Schroder, Jason
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Sen, Kuntal
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2024, 194 (11)

Kukulka, Natalie A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA

Zarei, Sanam
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA

Glass, Joshua
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hosp, Ctr Canc & Blood Disorders, Washington, DC USA Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA

Bouska, Cecilia
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hosp, Neurogenet Dept, Washington, DC USA Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA

Schroder, Jason
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Hosp, Radiol Dept, Washington, DC USA Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA

Sen, Kuntal
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Neurosci & Behav Med, Washington, DC USA Childrens Natl Hosp, Neurol Dept, 111 Michigan Ave NW, Washington, DC 20010 USA
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CLINICAL AND GENETIC SPECTRUM OF PATIENTS WITH BAG3-RELATED NEUROMUSCULAR DISORDERS IN EUROPE
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Fernandez-Eulate, Gorka
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Gitiaux, Cyril
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Thiele, Simone
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Jungbluth, Heinz
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Audic, Frederique
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Potulska-Chromik, Anna
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Marini-Bettolo, Chiara
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Davion, Jean Baptiste
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Moris de la Tassa, German
;
Olive, Montse
;
Pablo de Fuenmayor-Fernandez de la Hoz, Carlos
;
Isapof, Arnaud
;
Topf, Ana
;
Walter, Maggie
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Angelini, Corrado
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Claeys, Kristl
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Kostera-Pruszczyk, Anna
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Attarian, Shahram
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Straub, Volker
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Dominguez-Gonzalez, Cristina
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Vissing, John
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Metay, Corinne
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Khraiche, Diala
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Wahbi, Karim
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Stojkovic, Tanya
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JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM,
2024, 29
:S20-S21

Fernandez-Eulate, Gorka
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, France

Gitiaux, Cyril
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malad Hosp, Paris, France Hop La Pitie Salpetriere, Paris, France

Thiele, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany Hop La Pitie Salpetriere, Paris, France

Jungbluth, Heinz
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, London, England Hop La Pitie Salpetriere, Paris, France

Audic, Frederique
论文数: 0 引用数: 0
h-index: 0
机构:
Timone Enfants Hosp, Marseille, France Hop La Pitie Salpetriere, Paris, France

论文数: 引用数:
h-index:
机构:

Marini-Bettolo, Chiara
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle, England
Newcastle Hosp NHS Fdn Trust, Newcastle, England Hop La Pitie Salpetriere, Paris, France

Davion, Jean Baptiste
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Lille, Lille, France Hop La Pitie Salpetriere, Paris, France

Moris de la Tassa, German
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Cent Asturias, Oviedo, Spain Hop La Pitie Salpetriere, Paris, France

Olive, Montse
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Santa Creu & Sant Pau, Barcelona, Spain Hop La Pitie Salpetriere, Paris, France

Pablo de Fuenmayor-Fernandez de la Hoz, Carlos
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ 12 Octubre, Madrid, Spain Hop La Pitie Salpetriere, Paris, France

Isapof, Arnaud
论文数: 0 引用数: 0
h-index: 0
机构:
Armand Trousseau Hosp, Paris, France Hop La Pitie Salpetriere, Paris, France

Topf, Ana
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle, England
Newcastle Hosp NHS Fdn Trust, Newcastle, England Hop La Pitie Salpetriere, Paris, France

Walter, Maggie
论文数: 0 引用数: 0
h-index: 0
机构:
Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany Hop La Pitie Salpetriere, Paris, France

论文数: 引用数:
h-index:
机构:

Claeys, Kristl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Leuven, Dept Neurol, Leuven, Netherlands Hop La Pitie Salpetriere, Paris, France

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h-index:
机构:

Attarian, Shahram
论文数: 0 引用数: 0
h-index: 0
机构:
AP HM, Marseille, France Hop La Pitie Salpetriere, Paris, France

Straub, Volker
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Newcastle, England
Newcastle Hosp NHS Fdn Trust, Newcastle, England Hop La Pitie Salpetriere, Paris, France

Dominguez-Gonzalez, Cristina
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ 12 Octubre, Madrid, Spain Hop La Pitie Salpetriere, Paris, France

论文数: 引用数:
h-index:
机构:

Metay, Corinne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Paris, France Hop La Pitie Salpetriere, Paris, France

Khraiche, Diala
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Enfants Malad Hosp, Paris, France Hop La Pitie Salpetriere, Paris, France

Wahbi, Karim
论文数: 0 引用数: 0
h-index: 0
机构:
Cochin Hosp, Paris, France Hop La Pitie Salpetriere, Paris, France

Stojkovic, Tanya
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Inst Myol, Pitie Salpetriere Hosp, Paris, France Hop La Pitie Salpetriere, Paris, France
[26]
Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder
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Carlson, Ryan J.
;
Quesnel, Alicia
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Wells, Dawson
;
Brownstein, Zippora
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Gilony, Dror
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Gulsuner, Suleyman
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Leppig, Kathleen A.
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Avraham, Karen B.
;
King, Mary-Claire
;
Walsh, Tom
;
Rubinstein, Jay
.
OTOLOGY & NEUROTOLOGY,
2021, 42 (08)
:E1143-E1151

Carlson, Ryan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA USA
Univ Washington, Dept Med, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA USA

Quesnel, Alicia
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Otolaryngol, Boston, MA USA
Massachusetts Eye & Ear, Otopathol Lab, Boston, MA USA Univ Washington, Dept Genome Sci, Seattle, WA USA

Wells, Dawson
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Dept Otolaryngol, Boston, MA USA
Massachusetts Eye & Ear, Otopathol Lab, Boston, MA USA Univ Washington, Dept Genome Sci, Seattle, WA USA

Brownstein, Zippora
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Human Mol Genet & Biochem, Fac Med, Tel Aviv, Israel
Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel Univ Washington, Dept Genome Sci, Seattle, WA USA

Gilony, Dror
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Human Mol Genet & Biochem, Fac Med, Tel Aviv, Israel
Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel
Schneider Childrens Med Ctr Israel, Pediat Otolaryngol Unit, Petah Tiqwa, Israel Univ Washington, Dept Genome Sci, Seattle, WA USA

Gulsuner, Suleyman
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA USA
Univ Washington, Dept Med, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA USA

Leppig, Kathleen A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kaiser Permanente Washington, Genet Serv, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA USA

Avraham, Karen B.
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Dept Human Mol Genet & Biochem, Fac Med, Tel Aviv, Israel
Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel Univ Washington, Dept Genome Sci, Seattle, WA USA

King, Mary-Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Genome Sci, Seattle, WA USA
Univ Washington, Dept Med, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA USA

论文数: 引用数:
h-index:
机构:

Rubinstein, Jay
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Virginia Merrill Bloedel Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA USA
[27]
Clinical and neuropathological associations of plasma Aβ42/Aβ40, p-tau217 and neurofilament light in sporadic frontotemporal dementia spectrum disorders
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Rajbanshi, Binita
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Araujo, Igor Prufer Q. C.
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Vandevrede, Lawren
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Ljubenkov, Peter A.
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Staffaroni, Adam M.
;
Heuer, Hilary W.
;
Lago, Argentina Lario
;
Ramos, Eliana Marisa
;
Petrucelli, Leonard
;
Gendron, Tania
;
Dage, Jeffrey L.
;
Seeley, William W.
;
Grinberg, Lea T.
;
Spina, Salvatore
;
Bateman, Randall J.
;
Rosen, Howard J.
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Boeve, Bradley F.
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Boxer, Adam L.
;
Rojas, Julio C.
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LLFTD Consortium
.
ALZHEIMER'S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING,
2025, 17 (01)

Rajbanshi, Binita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Araujo, Igor Prufer Q. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Vandevrede, Lawren
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Ljubenkov, Peter A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Staffaroni, Adam M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Heuer, Hilary W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Lago, Argentina Lario
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Ramos, Eliana Marisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Petrucelli, Leonard
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurosci, Jacksonville, FL USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Gendron, Tania
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurosci, Jacksonville, FL USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Dage, Jeffrey L.
论文数: 0 引用数: 0
h-index: 0
机构:
Indiana Univ Sch Med, Dept Neurol, Indianapolis, IN USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Seeley, William W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Grinberg, Lea T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Spina, Salvatore
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Bateman, Randall J.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Rosen, Howard J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Boeve, Bradley F.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Rochester, MN USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Boxer, Adam L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

Rojas, Julio C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA

LLFTD Consortium
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, Weill Inst Neurosci, Memory & Aging Ctr, Dept Neurol, 675 Nelson Rising Lane, Suite 190, San Francisco, CA 94158 USA
[28]
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
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Rudilla, Francesc
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Franco-Jarava, Clara
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Martinez-Gallo, Monica
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Garcia-Prat, Marina
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Martin-Nalda, Andrea
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Riviere, Jacques
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Aguilo-Cucurull, Aina
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Mongay, Laura
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Vidal, Francisco
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Solanich, Xavier
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Irastorza, Inaki
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Luis Santos-Perez, Juan
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Tercedor Sanchez, Jesus
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Cusco, Ivon
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Serra, Clara
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Baz-Redon, Noelia
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Fernandez-Cancio, Monica
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Carreras, Carmen
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Manuel Vagace, Jose
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Garcia-Patos, Vicenc
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Pujol-Borrell, Ricardo
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Soler-Palacin, Pere
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Colobran, Roger
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FRONTIERS IN IMMUNOLOGY,
2019, 10

Rudilla, Francesc
论文数: 0 引用数: 0
h-index: 0
机构:
Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain
Autonomous Univ Barcelona, Vall dHebron Res Inst, Transfus Med Grp, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Franco-Jarava, Clara
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Immunol Div,Dept Cell Biol Physiol & Immunol, Barcelona, Spain
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Martinez-Gallo, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Immunol Div,Dept Cell Biol Physiol & Immunol, Barcelona, Spain
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Garcia-Prat, Marina
论文数: 0 引用数: 0
h-index: 0
机构:
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Pediat Infect Dis & Immunodeficiencies Unit UPIIP, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Martin-Nalda, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Pediat Infect Dis & Immunodeficiencies Unit UPIIP, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Riviere, Jacques
论文数: 0 引用数: 0
h-index: 0
机构:
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Pediat Infect Dis & Immunodeficiencies Unit UPIIP, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Aguilo-Cucurull, Aina
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Immunol Div,Dept Cell Biol Physiol & Immunol, Barcelona, Spain
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Mongay, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Vidal, Francisco
论文数: 0 引用数: 0
h-index: 0
机构:
Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain
Autonomous Univ Barcelona, Vall dHebron Res Inst, Transfus Med Grp, Barcelona, Spain
Inst Salud Carlos III, CIBER Cardiovasc Dis CIBERCV, Valencia, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Solanich, Xavier
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Bellvitge, Inst Invest Biomed Bellvitge, Internal Med Dept, Adult Immunodeficiencies Unit UFIPA, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Irastorza, Inaki
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Basque Country, Cruces Univ Hosp, Pediat Gastroenterol, Bilbao, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Luis Santos-Perez, Juan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Virgen Nieves, Immunodeficiencies & Infect Dis Unit, Granada, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Tercedor Sanchez, Jesus
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Virgen Nieves, Inst Invest Biosanitaria IBS, Unidad Dermatol Pediat & Anomalias Vasc, Serv Dermatol, Granada, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Cusco, Ivon
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Vall dHebron, Genet Dept, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Serra, Clara
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Vall dHebron, Genet Dept, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Baz-Redon, Noelia
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Growth & Dev Grp, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Fernandez-Cancio, Monica
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Growth & Dev Grp, Barcelona, Spain
Inst Salud Carlos III, CIBER Rare Dis CIBERER, Madrid, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Carreras, Carmen
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ & Politecn La Fe, Pediat Hematol & Immunodeficiencies Unit, Valencia, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Manuel Vagace, Jose
论文数: 0 引用数: 0
h-index: 0
机构:
Complejo Hosp Univ Badajoz, Hematol Dept, Badajoz, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Garcia-Patos, Vicenc
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Univ Vall dHebron, Dermatol Dept, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Pujol-Borrell, Ricardo
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Immunol Div,Dept Cell Biol Physiol & Immunol, Barcelona, Spain
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Soler-Palacin, Pere
论文数: 0 引用数: 0
h-index: 0
机构:
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Pediat Infect Dis & Immunodeficiencies Unit UPIIP, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain

Colobran, Roger
论文数: 0 引用数: 0
h-index: 0
机构:
Autonomous Univ Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Immunol Div,Dept Cell Biol Physiol & Immunol, Barcelona, Spain
Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain
Hosp Univ Vall dHebron, Genet Dept, Barcelona, Spain Banc Sang & Teixits, Immunogenet & Histocompatibil Lab, Barcelona, Spain
[29]
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
[J].
Bohlega, Saeed A.
;
Abou-Al-Shaar, Hussam
;
AlDakheel, Amaal
;
Alajlan, Huda
;
Bohlega, Balsam S.
;
Meyer, Brian F.
;
Monies, Dorota
;
Cupler, Edward J.
;
Al-Saif, Amr M.
.
PARKINSONISM & RELATED DISORDERS,
2019, 64
:145-149

Bohlega, Saeed A.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Abou-Al-Shaar, Hussam
论文数: 0 引用数: 0
h-index: 0
机构:
Hofstra Northwell Sch Med, Dept Neurosurg, Manhasset, NY USA King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

AlDakheel, Amaal
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Alajlan, Huda
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Bohlega, Balsam S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Meyer, Brian F.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Monies, Dorota
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Cupler, Edward J.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Jeddah, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia

Al-Saif, Amr M.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
King Fahad Specialist Hosp, Dept Biomed Res, Dammam, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Div Neurol, Movement Disorder Program, Riyadh, Saudi Arabia
[30]
Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies A Review
[J].
Breevoort, Sarah
;
Gibson, Summer
;
Figueroa, Karla
;
Bromberg, Mark
;
Pulst, Stefan
.
NEUROLOGY-GENETICS,
2022, 8 (03)

Breevoort, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA

Gibson, Summer
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA

Figueroa, Karla
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA

Bromberg, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA

Pulst, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA