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August 2022; 8 (4)

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A

  1. Abramovich, Beatrice

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

  2. Akçimen, Fulya

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

  3. Akinwe, Titilope M.

    1. Open Access
      Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
      Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann

  4. Al-Ouran, Rami

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  5. Alharby, Essa

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

  6. Alhashem, Amal

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

  7. Alkuraya, Fowzan S.

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

  8. Almontashiri, Naif A.M.

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

  9. Alsaleh, Norah

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

B

  1. Bertini, Enrico

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  2. Bewley, Alice F.

    1. Open Access
      Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
      Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann

  3. Burdon, Kathryn P.

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

C

  1. Carrozzo, Rosalba

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  2. Cinnante, Claudia

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  3. Ciscato, Patrizia

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  4. Comi, Giacomo

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  5. Corti, Stefania

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

D

  1. Deger, Jennifer

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  2. Desai, Neeja

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  3. Dion, Patrick A.

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

  4. Doddapaneni, Harshavardhan

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  5. Drory, Vivian E.

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

  6. Dugan-Perez, Shannon

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  7. Dupré, Nicolas

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

E

  1. Espay, Alberto J.

    1. Open Access
      Familial Brain Calcifications With LeukoencephalopathyA Novel PDGFB Variant
      Jack Shen, Amelle Shillington, Alberto J. Espay, Emily J. Hill

F

  1. Farhan, Sali M.K.

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

  2. Fong, Jamie C.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

G

  1. Gana-Weisz, Mali

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

  2. Gibbs, Richard A.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  3. Goldstein, Orly

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

  4. Gutmann, David H.

    1. Open Access
      Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
      Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann

H

  1. Hill, Emily J.

    1. Open Access
      Familial Brain Calcifications With LeukoencephalopathyA Novel PDGFB Variant
      Jack Shen, Amelle Shillington, Alberto J. Espay, Emily J. Hill
    2. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

I

  1. Inbar, Talya

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

J

  1. Jankovic, Joseph

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

K

  1. Kedmi, Merav

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

L

  1. Liao, Calwing

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

  2. Lin, Xin

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

  3. Liu, Zhandong

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

M

  1. Manini, Arianna

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  2. McGuire, Amy L.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  3. Melton, Phillip E.

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

  4. Moggio, Maurizio

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  5. Mohamed, Sarar

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

  6. Muzny, Donna M.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

O

  1. Orr-Urtreger, Avi

    1. Open Access
      FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilityEvidence for Association and Oligogenic Inheritance
      Orly Goldstein, Talya Inbar, Merav Kedmi, Mali Gana-Weisz, Beatrice Abramovich, Avi Orr-Urtreger, Vivian E. Drory

P

  1. Primiano, Guido

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

R

  1. Rao, Sindhu

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  2. Robak, Laurie A.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  3. Ronchi, Dario

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  4. Ross, Jay P.

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

  5. Rouleau, Guy A.

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

S

  1. Saade, Hiba

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  2. Sabino, Andrea

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  3. Salvi, Sejal

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  4. Savitt, Joseph M.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  5. Schulman, Emily

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  6. Servidei, Serenella

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  7. Shaw, Chad

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  8. Shen, Jack

    1. Open Access
      Familial Brain Calcifications With LeukoencephalopathyA Novel PDGFB Variant
      Jack Shen, Amelle Shillington, Alberto J. Espay, Emily J. Hill

  9. Shillington, Amelle

    1. Open Access
      Familial Brain Calcifications With LeukoencephalopathyA Novel PDGFB Variant
      Jack Shen, Amelle Shillington, Alberto J. Espay, Emily J. Hill

  10. Shulman, Joshua M.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  11. Shulman, Lisa M.

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  12. Silvestri, Gabriella

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  13. Simpson-Yap, Steve

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

  14. Singh, Vikrant

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

  15. Spiegelman, Dan

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

T

  1. Tabarki, Brahim

    1. Open Access
      A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
      Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri

  2. Taylor, Bruce V.

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

  3. Torraco, Alessandra

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  4. Turner, Tychele N.

    1. Open Access
      Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
      Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann

V

  1. Vandeventer, Paul Jerrod

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

  2. Velardo, Daniele

    1. Open Access
      Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
      Arianna Manini, Daniele Velardo, Patrizia Ciscato, Claudia Cinnante, Maurizio Moggio, Giacomo Comi, Stefania Corti, Dario Ronchi

  3. Verrigni, Daniela

    1. Open Access
      Novel TOP3A Variant Associated With Mitochondrial DiseaseExpanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
      Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

  4. von Coelln, Rainer

    1. Open Access
      Genome Sequencing in the Parkinson Disease Clinic
      Emily J. Hill, Laurie A. Robak, Rami Al-Ouran, Jennifer Deger, Jamie C. Fong, Paul Jerrod Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, Harshavardhan Doddapaneni, Sejal Salvi, Shannon Dugan-Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua M. Shulman

W

  1. Weisburd, Ben

    1. Open Access
      Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
      Jay P. Ross, Fulya Akçimen, Calwing Liao, Dan Spiegelman, Ben Weisburd, Nicolas Dupré, Patrick A. Dion, Guy A. Rouleau, Sali M.K. Farhan

Y

  1. Yang, Yuanhao

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou

Z

  1. Zhou, Yuan

    1. Open Access
      Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
      Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce V. Taylor, Yuan Zhou
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Neurology Genetics: 8 (4)
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