Результаты поиска авторов

1

The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses по Sara Mole

Опубликовано 2004

Полный текст
Revisão

Добавить в Избранное

Сохранить в:
2

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses по Emily Gardner, Sara Mole

Опубликовано 2021

Полный текст Полный текст
Revisão

Добавить в Избранное

Сохранить в:
3

Genetics of the neuronal ceroid lipofuscinoses (Batten disease) по Sara Mole, Susan L. Cotman

Опубликовано 2015

Полный текст
Revisão

Добавить в Избранное

Сохранить в:
4

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses по Maria Kousi, Anna‐Elina Lehesjoki, Sara Mole

Опубликовано 2011

Полный текст Полный текст
Revisão

Добавить в Избранное

Сохранить в:
5

btn1, theSchizosaccharomyces pombehomologue of the human Batten disease geneCLN3, regulates vacuole homeostasis по Yannick Gachet, Sandra Codlin, Jeremy S. Hyams, Sara Mole

Опубликовано 2005

Полный текст
Artigo

Добавить в Избранное

Сохранить в:
6

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses по Elisabeth Butz, Uma Chandrachud, Sara Mole, Susan L. Cotman

Опубликовано 2019

Полный текст
Revisão

Добавить в Избранное

Сохранить в:
7

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis по José Brás, Alain Verloès, Susanne A. Schneider, Sara Mole, Rita Guerreiro

Опубликовано 2012

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
8

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis по Claudia Kitzmüller, R. L. Haines, S. Codlin, Daniel F. Cutler, Sara Mole

Опубликовано 2007

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
9

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation по Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke‐Ahmadinejad, Sara Mole, Stephan Storch

Опубликовано 2018

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
10

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease по Emily Gardner, Mitch Bailey, Angela Schulz, Mikel Aristorena, Nicole L. Miller, Sara Mole

Опубликовано 2019

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
11

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein по Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth Williams, Sara Mole

Опубликовано 2002

Полный текст
Artigo

Добавить в Избранное

Сохранить в:
12

Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis по Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, R. Mark Gardiner, Ruth Williams, Sara Mole

Опубликовано 2003

Полный текст
Artigo

Добавить в Избранное

Сохранить в:
13

Murine Cathepsin F Deficiency Causes Neuronal Lipofuscinosis and Late-Onset Neurological Disease по Chi‐Hui Tang, Je–Wook Lee, Michael G. Galvez, Liliane Robillard, Sara Mole, Harold A. Chapman

Опубликовано 2006

Полный текст
Artigo

Добавить в Избранное

Сохранить в:
14

A model for Batten disease protein CLN3: Functional implications from homology and mutations по Robert W. Janes, Patricia B. Munroe, Hannah M. Mitchison, R. Mark Gardiner, Sara Mole, B.A. Wallace

Опубликовано 1996

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
15

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses по Romina Kohan, Inés Adriana Cismondi, Ana María Oller-Ramírez, Norberto Guelbert, Verónica Tapia Anzolini, Graciela Alonso, Sara Mole, Raquel Dodelson de Kremer, Inés Noher de Halac

Опубликовано 2011

Полный текст
Revisão

Добавить в Избранное

Сохранить в:
16

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis по Maria Kousi, Eija Siintola, Lenka Dvořáková, Hana Vlášková, Julie Turnbull, Meral Topçu, Deniz Yüksel, Sarenur Gökben, Berge A. Minassian, M. Elleder, Sara Mole, Anna-Elina Lehesjoki

Опубликовано 2009

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
17

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy по Susanna Ranta, Meral Topçu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Işıl Saatçi, Andreas Dufke, H. Enders, Keith Pohl, Yves Alembik, Wayne Mitchell, Sara Mole, Anna‐Elina Lehesjoki

Опубликовано 2004

Полный текст
Artigo

Добавить в Избранное

Сохранить в:
18

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease по Anne-Hélène Lebrun, Parisa Moll-Khosrawi, Sandra Pohl, G. Makrypidi, Stephan Storch, Dirk Kilian, Thomas Streichert, Benjamin Otto, Sara Mole, Kurt Ullrich, Susan L. Cotman, Alfried Kohlschütter, Thomas Braulke, Angela Schulz

Опубликовано 2011

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:
19

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom по Sara Mole, Paul Gissen, Sam Nordström, Suzanne Wait, Louise Allen, Mario Antonini, Liz Brownnutt, Richard Brown, Barbara Cole, Frances Gibbon, Robert Henderson, Sarah Kenrick, Zlatko Sisic, BrianC. Thompson, Joanna Nightingale

Опубликовано 2025

Полный текст
Artigo

Добавить в Избранное

Сохранить в:
20

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 по Mallorie Poët, Uwe Kornak, Michaela Schweizer, Anselm A. Zdebik, Olaf Scheel, Sabine M. Hoelter, Wolfgang Wurst, Anja Schmitt, Jens C. Fuhrmann, Rosa Planells‐Cases, Sara Mole, Christian A. Hübner, Thomas J. Jentsch

Опубликовано 2006

Полный текст Полный текст
Artigo

Добавить в Избранное

Сохранить в:

The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses по Sara Mole

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses по Emily Gardner, Sara Mole

Genetics of the neuronal ceroid lipofuscinoses (Batten disease) по Sara Mole, Susan L. Cotman

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses по Maria Kousi, Anna‐Elina Lehesjoki, Sara Mole

<i>btn1</i>, the<i>Schizosaccharomyces pombe</i>homologue of the human Batten disease gene<i>CLN3</i>, regulates vacuole homeostasis по Yannick Gachet, Sandra Codlin, Jeremy S. Hyams, Sara Mole

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses по Elisabeth Butz, Uma Chandrachud, Sara Mole, Susan L. Cotman

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis по José Brás, Alain Verloès, Susanne A. Schneider, Sara Mole, Rita Guerreiro

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis по Claudia Kitzmüller, R. L. Haines, S. Codlin, Daniel F. Cutler, Sara Mole

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation по Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke‐Ahmadinejad, Sara Mole, Stephan Storch

Mutation update: Review of <i>TPP1</i> gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease по Emily Gardner, Mitch Bailey, Angela Schulz, Mikel Aristorena, Nicole L. Miller, Sara Mole

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein по Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth Williams, Sara Mole

Spectrum of<i>CLN6</i>mutations in variant late infantile neuronal ceroid lipofuscinosis по Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, R. Mark Gardiner, Ruth Williams, Sara Mole

Murine Cathepsin F Deficiency Causes Neuronal Lipofuscinosis and Late-Onset Neurological Disease по Chi‐Hui Tang, Je–Wook Lee, Michael G. Galvez, Liliane Robillard, Sara Mole, Harold A. Chapman

A model for Batten disease protein CLN3: Functional implications from homology and mutations по Robert W. Janes, Patricia B. Munroe, Hannah M. Mitchison, R. Mark Gardiner, Sara Mole, B.A. Wallace

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses по Romina Kohan, Inés Adriana Cismondi, Ana María Oller-Ramírez, Norberto Guelbert, Verónica Tapia Anzolini, Graciela Alonso, Sara Mole, Raquel Dodelson de Kremer, Inés Noher de Halac

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis по Maria Kousi, Eija Siintola, Lenka Dvořáková, Hana Vlášková, Julie Turnbull, Meral Topçu, Deniz Yüksel, Sarenur Gökben, Berge A. Minassian, M. Elleder, Sara Mole, Anna-Elina Lehesjoki

Результаты поиска - Sara Mole

The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses по Sara Mole

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses по Emily Gardner, Sara Mole

Genetics of the neuronal ceroid lipofuscinoses (Batten disease) по Sara Mole, Susan L. Cotman

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses по Maria Kousi, Anna‐Elina Lehesjoki, Sara Mole

<i>btn1</i>, the<i>Schizosaccharomyces pombe</i>homologue of the human Batten disease gene<i>CLN3</i>, regulates vacuole homeostasis по Yannick Gachet, Sandra Codlin, Jeremy S. Hyams, Sara Mole

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses по Elisabeth Butz, Uma Chandrachud, Sara Mole, Susan L. Cotman

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis по José Brás, Alain Verloès, Susanne A. Schneider, Sara Mole, Rita Guerreiro

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis по Claudia Kitzmüller, R. L. Haines, S. Codlin, Daniel F. Cutler, Sara Mole

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation по Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke‐Ahmadinejad, Sara Mole, Stephan Storch

Mutation update: Review of <i>TPP1</i> gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease по Emily Gardner, Mitch Bailey, Angela Schulz, Mikel Aristorena, Nicole L. Miller, Sara Mole

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein по Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth Williams, Sara Mole

Spectrum of<i>CLN6</i>mutations in variant late infantile neuronal ceroid lipofuscinosis по Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, R. Mark Gardiner, Ruth Williams, Sara Mole

Murine Cathepsin F Deficiency Causes Neuronal Lipofuscinosis and Late-Onset Neurological Disease по Chi‐Hui Tang, Je–Wook Lee, Michael G. Galvez, Liliane Robillard, Sara Mole, Harold A. Chapman

A model for Batten disease protein CLN3: Functional implications from homology and mutations по Robert W. Janes, Patricia B. Munroe, Hannah M. Mitchison, R. Mark Gardiner, Sara Mole, B.A. Wallace

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses по Romina Kohan, Inés Adriana Cismondi, Ana María Oller-Ramírez, Norberto Guelbert, Verónica Tapia Anzolini, Graciela Alonso, Sara Mole, Raquel Dodelson de Kremer, Inés Noher de Halac

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis по Maria Kousi, Eija Siintola, Lenka Dvořáková, Hana Vlášková, Julie Turnbull, Meral Topçu, Deniz Yüksel, Sarenur Gökben, Berge A. Minassian, M. Elleder, Sara Mole, Anna-Elina Lehesjoki

Инструменты поиска:

Связанные темы