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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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June 2021; 7 (3)

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A

  1. Alasmari, Ali

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Alharby, Essa

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)
  3. Almontashiri, Naif A.M.

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)
  4. Almuntashri, Makki

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)

B

  1. Bakhsh, Ismail

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Barsottini, Orlando

    1. Open Access
      Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
      Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
      • Full Text
      • Full Text (PDF)

E

  1. Elamin, Mohammed A.O.

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)

G

  1. Gutmann, David H.

    1. Open Access
      Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
      Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
      • Full Text
      • Full Text (PDF)

K

  1. King-Robson, Josh

    1. Open Access
      Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
      Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
      • Full Text
      • Full Text (PDF)

M

  1. Mansour, Sahar

    1. Open Access
      Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
      Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
      • Full Text
      • Full Text (PDF)
  2. Marshall, Joseph

    1. Open Access
      Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
      Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
      • Full Text
      • Full Text (PDF)
  3. Morris, Stephanie M.

    1. Open Access
      Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
      Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
      • Full Text
      • Full Text (PDF)

O

  1. Obaid, Mona

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)

P

  1. Peake, Roy W.A.

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Pedroso, José Luiz

    1. Open Access
      Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
      Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
      • Full Text
      • Full Text (PDF)

Q

  1. Quaio, Caio R.

    1. Open Access
      Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
      Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
      • Full Text
      • Full Text (PDF)

R

  1. Ramirez, Erika

    1. Open Access
      Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
      Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
      • Full Text
      • Full Text (PDF)
  2. Rosa, Augusto B.R.

    1. Open Access
      Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
      Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
      • Full Text
      • Full Text (PDF)

S

  1. Samman, Manar

    1. Open Access
      Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome
      Essa Alharby, Mona Obaid, Mohammed A.O. Elamin, Makki Almuntashri, Ismail Bakhsh, Manar Samman, Roy W.A. Peake, Ali Alasmari, Naif A.M. Almontashiri
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Smith, Frances

    1. Open Access
      Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
      Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
      • Full Text
      • Full Text (PDF)
  3. Sztriha, Laszlo

    1. Open Access
      Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
      Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
      • Full Text
      • Full Text (PDF)

T

  1. Tonholo Silva, Thiago Y.

    1. Open Access
      Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
      Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
      • Full Text
      • Full Text (PDF)
  2. Turner, Tychele N.

    1. Open Access
      Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
      Erika Ramirez, Stephanie M. Morris, Tychele N. Turner, David H. Gutmann
      • Full Text
      • Full Text (PDF)

V

  1. Verbeek, Dineke

    1. Open Access
      Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?
      Thiago Y. Tonholo Silva, Augusto B.R. Rosa, Caio R. Quaio, Dineke Verbeek, José Luiz Pedroso, Orlando Barsottini
      • Full Text
      • Full Text (PDF)

W

  1. Willoughby, Leanne

    1. Open Access
      Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation
      Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha
      • Full Text
      • Full Text (PDF)
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